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Pediatrics > Genetic disorders and inborn errors of metabolism > Flashcards

Genetic disorders and inborn errors of metabolism Flashcards

1
Q

Malformation

A

Occurs when an intrinsically abnormal process forms abnormal tissue (e.g. bladder extrophy results from the failure of the infraumbilical mesenchyme to migrate and form the lower abdominal wall)

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2
Q

Deformation

A

Occurs when mechanical forces exerted on normal tissue results in abnormal tissue (e.g. constraint caused by an abnormal shaped uterus results in an abnormally shaped fetal skull)

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3
Q

Disruption

A

Occurs when normal tissue becomes abnormal after being subjected to destructive forces (e.g. decreased blood flow to an organ causes tissue ischemia, eventually resulting in atretic organ)

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4
Q

Syndrome

A

Occurs when a collection of seemingly unrelated abnormal features occur in a familiar pattern (e.g. because many of the clinical features of children with Down syndrome, these children appear to be related to each other)

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5
Q

Elevated alpha fetoprotein

A
  • Fetal neural tube defects
  • Mutiple gestation pregnancies
  • Underestimated gestational age
  • Ventral abdominal wall defects
  • Fetal demise
  • Fetal conditions that cause edema or skin defects
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6
Q

Low alpha fetoprotein

A
  • Overestimated gestational age
  • Trisomies 21 and 18
  • Intrauterine growth retardation
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7
Q

Triple marker

A

AFP, unconjugated estriol, beta hCG

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8
Q

Triple marker that suggests Down syndrome

A
  • Low AFP
  • Low unconjugated estriol
  • High beta hCG
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9
Q

Triple marker that suggests Trisomy 18

A
  • Low AFP
  • Low unconjugated estriol
  • Low beta hCG
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10
Q

Marfan syndrome

A
  • Autosomal dominant
  • Connective tissue disorder that affects primarily the ocular, cardiovascular, and skeletal systems
  • Chromosome 15
  • Fibrillin - protein that plays a major role in providing structure for connective tissues
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11
Q

Clinical features of Marfan syndrome

A
  • Skeletal: tall stature with elongated extremities and long fingers, joint laxity, chest wall deformities, scoliosis, kyphosis
  • Ocular: upward lens subluxation, retinal detachment
  • Cardiovascular: aortic root dilatation, mitral valve prolapse and aortic regurgitation
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12
Q

Complications of Marfan syndrome

A
  • Endocarditis
  • Retinal detachment
  • Sudden death as a result of aortic dissection
  • Hypertension and chest trauma increase dissection risk (overall risk is reduced with beta blockers and avoiding contact sports)
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13
Q

Prader-Willi syndrome

A
  • Genomic imprinting

- Caused by the absence of a region not eh paternally derived chromosome 15

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14
Q

Clinical features of Prader-Willi syndrome

A
  • Craniofacial finidngs: almond shaped eyes and down turned, fishlike mouth
  • Growth problems include failure to thrive because of feeding difficulties in first year followed by obesity as a result of hyperphagia later in childhood
  • Short stature with small hands and feet
  • Neurologic features: hypotonia, mental retardation, learning disabilities, and behavioral problems
  • Hypogonadism manifests in small penis, small testes or cryptorchidism
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15
Q

Complications of Prader-Willi syndrome

A
  • Infancy: hypotonia may lead to poor sucking, feeding problems and developmental delay
  • Childhood: obesity may lead to obstructive sleep apnea
  • Adulthood: obesity may lead to cardiac disease and type 2 DM; psychiatric illness may also be present
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16
Q

Angelman syndrome

A
  • Happy puppet syndrome
  • Characteristic jerky, puppetlike gait and happy demeanor with frequent laughter and smiling
  • Genetic imprinting
  • Deletion of a region on the maternally derived chromosome 15
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17
Q

Clinical features of Angelman syndrome

A
  • Neurologic: jerky arm movements, ataxia, and paroxysms of inappropriate laughter, mental retardation is severe
  • Craniofacial findings include a small wide head, large mouth with widely spaced teeth, tongue protrusions and prognathia
  • Blonde hair and pale blue deep set eyes
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18
Q

Noonan syndrome

A
  • Male version of Turner syndrome, but females may also be affected
  • Usually sporadic, but AD pattern has been reported
  • Chromosome 12
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19
Q

Clinical features of Noonan syndrome

A
  • Skeletal findings include short stature and a shield chest
  • Craniofacial findings include a short webbed neck and low hairline, hypertelorism, epicentral skin folds, down slanting palpebral fissures and low set ears
  • Cardiac defects include right sided heart lesions, most commonly pulmonary valve stenosis
  • Mental retardation
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20
Q

DiGeorge syndrome and velocardiofacial syndrome

A
  • 2 distinct syndromes
  • Both deletion at chromosome 22q11

CATCH-22:

  • Cardiac anomaly
  • Abnormal facies
  • Thymic hypoplasia
  • Cleft palate
  • Hypocalcemia
  • Gene defect on chromosome 22
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21
Q

DiGeorge syndrome

A

Defect in the structures derived from the 3rd and 4th pharyngeal pouches

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22
Q

Clinical features of DiGeorge syndrome

A
  • Craniofacial findings include short palpebral fissures, small chin and ear anomalies
  • Cardiac findings include aortic arch anomalies, ventricular septal defects and tetralogy of Fallot
  • Thymus and parathyroid hypoplasia cause cell-mediated immunodeficiency and severe hypocalcemia
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23
Q

Complications of DiGeorge syndrome

A
  • Infections as a result of cell-mediated immunodeficiency

- Seizures caused by hypocalcemia

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24
Q

Clinical features of velocardiofacial syndrome

A
  • Craniofacial findings include cleft palate, wide prominent nose with a squared nasal root, short chin and fish shaped mouth
  • Cardiac findings include ventricular septal defects and a right sided aortic arch
  • Neurologic findings include neonatal hypotonia, learning diabilties and preservative behaviors
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25
Q

Ehlers-Danlos syndrome

A
  • Production of defective type V collagen resulting in hyper extensible joints, fragile vessels, and loose skin
  • Autosomal dominant
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26
Q

Clinical features of Ehlers-Danlos syndrome

A
  • Musculoskeletal findings include hyperextensible joints with a tendency toward joint dislocation and scoliosis
  • Dermatologic findings include soft, velvety textured, loose, fragile skin
  • Minor lacerations result in large wounds that heal poorly with broad, atrophic, tissue paper-thin scars
  • Cardiovascular findings include mitral valve prolapse, aortic root dilation, and fragile blood vessels that result in ease of bruising
  • GI features include constipation, retail prolapse and hernias
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27
Q

Complications of Ehlers-Danlos syndrome

A
  • Aortic dissection

- GI bleeding as a result of vessel fragility

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28
Q

Osteogenesis imperfecta

A
  • Results from mutations that cause production of abnormal type I collagen
  • Classified into 4 types based on clinical, radiographic, and genetic criteria
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29
Q

Clinical features of osteogenesis imperfecta

A
  • Blue sclerae
  • Skeletal findings such as fragile bones resulting in frequent fractures, genu valgum (knock knees), scoliosis, or kyphosis, joint laxity, and osteoporosis or osteopenia
  • Yellow or gray-blue teeth
  • Easy bruisability
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30
Q

Complications of osteogenesis imperfecta

A
  • Early conductive hearing loss

- Skeletal deformities as a result of fractures

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31
Q

VACTERL association

A
  • V: vertebral defects
  • A: anal atresia
  • C: cardiac anomalies (predominantly VSD)
  • TE: tracheoesophageal fistula
  • R: renal and genital defects
  • L: limb defects, including radial hypoplasia, syndactyly, and polydactyly
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32
Q

CHARGE association

A
  • C: colobomas (absence or defect of ocular tissue), usually of the retina; impaired vision is very common
  • H: heart defects, most commonly tetralogy of Fallot
  • A: atresia of the nasal choanae
  • R: retardation of growth and cognition
  • G: genital anomalies, including genital hypoplasia
  • E: ear anomalies, including cup-shaped ears and hearing loss
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33
Q

Williams syndrome

A
  • Most notable or the unique loquacious personality often described as a cocktail party personality
  • Caused by deletion on chromosome 7 that includes the gene for elastin
  • Inheritance autosomal dominant
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34
Q

Clinical features of Williams syndrome

A
  • Elfin facies - with short palpebral fissures, flat nasal bridge, and round cheeks
  • Mental retardation
  • Loquacious personality
  • Supravalvular aortic stenosis
  • Idiopathic hypercalcemia in infancy
  • Connective tissue abnormalities, including a hoarse voice and hernias
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35
Q

Clinical features of Cornelia de Lange syndrome

A
  • Small for gestational age
  • FTT
  • Craniofacial findings include single eyebrow (synophrys), long, curly eyelashes, microcephaly, thin, turned down upper lip and mirognathia
  • Infantile hypertonia
  • Mental retardation
  • Small hands and feet
  • Cardiac defects
  • Behavioral findings: autistic features, lack of facial expression and self destructive tendencies
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36
Q

Clinical features of Russell-Silver syndrome

A
  • Small for gestational age
  • Craniofacial findings include a small triangular face, prominent forehead and down turned mouth
  • Because of the small face, the head appears large, but the head circumference is normal
  • Skeletal findings include short stature and limb asymmetry
  • Cafe au lait spots on the skin
  • Excessive sweating
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37
Q

Clinical features of Pierre Robin syndrome

A
  • Micrognathia
  • Cleft lip and palate
  • Large, protruding tongue
  • Difficulty feeding because of cleft palate
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38
Q

Complications of Pierre Robin syndrome

A

Recurrent otitis media and upper airway obstruction that often requires tracheostomy

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39
Q

Clinical features of Cri du chat syndrome

A
  • Slow growth
  • Microcephaly
  • Mental retardation
  • Hypertelorism
  • Downslanting palpebral fissures
  • Catlike cry
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40
Q

Clinical features of trisomy 18

A
  • Neurologic findings include mental retardation and hypertonia with scissoring of the lower extremities
  • Delicate, small facial features
  • Musculoskeletal findings include clenched hands with overlapping digits, dorsiflexed big toes and rocker bottom feet
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41
Q

Clinical features of trisomy 13

A
  • Associated with midline defects, particularly of the face and forebrain
  • Neurologic findings inclue holoprosencephaly, microcephaly, seizures and severe mental retardation
  • Ocular findings include microphthalmia, retinal dysplasia, colobomas and a single eye
  • Cleft lip and palate
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42
Q

Clinical features of Turner syndrome

A
  • Short stature
  • Webbed neck and low posterior hairline
  • Shield chest with broadly spaced nipples and scoliosis and kyphosis
  • Swelling of the dorsum of hands and feet (congenital lymphedema) may be present at birth
  • Ovarian dysgenesis causes delayed puberty
  • Cardiac defects usually include left sided heart lesions especially coarctation of the aorta, bicuspid aortic valve and hypoplastic left heart
  • Hypothyroidism
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43
Q

Fragile X syndrome

A
  • X linked disorder
  • CGG repeats
  • Most common inherited cause of mental retardation
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44
Q

Clinical features of fragile X syndrome

A
  • Mild to severe mental retardation
  • Craniofacial findings include large ears, macrocephaly, thickened nasal bridge and blue irides
  • Large testes develop during puberty
  • Behavioral findings include emotional instability, autistic features, and ADHD
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45
Q

Klinefelter syndrome

A
  • Most common cause of male hypogonadism and infertility
  • XXY genotype
  • Risk increases with advancing maternal age
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46
Q

Clinical features of Klinefelter syndrome

A
  • Tall stature with long extremities
  • Hypogonadism, including small penis and testes, delayed puberty owing to lack of testosterone and infertility
  • Gynecomastia
  • Variable intelligence
  • Behavioral findings include antisocial behavior and excessive shyness or aggression
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47
Q

Skeletal dysplasias

A

Group of inherited diseases characterized by short stature caused by bone growth abnormalities

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48
Q

Rhizomelia

A

Proximal long bone abnormalities (e.g. short humerus and femur)

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49
Q

Mesomelia

A

Medial long bone abnormalities (e.g. short ulna and tibia)

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50
Q

Acromelia

A

Distal bone abnormalities (e.g. small hands and feet)

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51
Q

Spndylodysplasia

A

Abnormalities of the spine with or without limb abnormalities

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52
Q

Achondroplasia

A
  • Most common skeletal dysplasia
  • Rhizomelia
  • AD, but most are sporadic
  • Fibroblast growth factor receptor 3 gene
  • Increased incidence with advanced paternal age
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53
Q

Clinical features of achondroplasia

A
  • Megalencephaly (large brain)
  • Foramen magnum stenosis
  • Frontal bossing
  • Mid face hypoplasia
  • Low nasal bridge
  • Lumbar kyphosis in infancy evolving into lumbar lordosis in later childhood and adulthood
  • Rhizomelic limb shortening, bowed legs and joint hyper extensibility
  • Trident shaped hands
  • Recurrent otitis media with conductive hearing loss
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54
Q

Complications of achondroplasia

A
  • Foramen magnum stenosis may lead to hydrocephalus or cord compression
  • Obstructive sleep apnea and respiratory compromise may occur from foramen magnum narrowing and upper airway obstruction
  • Orthopedic problems such as severe bowed legs (genu varum) and back pain
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55
Q

Potter syndrome

A
  • Caused by severe oligohydramnios
  • This causes lung hypoplasia and fetal compression with limb abnormalities and facial features termed Potter facies
  • Severe oligohydramnios may occur as the result of a chronic amniotic fluid leak or intrauterine renal failure caused by bilateral renal agencies, polycystic kidneys or obstructive uropathy
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56
Q

Amniotic band syndrome/ amnion rupture sequence

A
  • Occurs as a result of rupture of the amniotic sac
  • Fluid leak leads to intrauterine constraint and small strand from the amnion may wrap around the fetus, causing limb scarring and amputation
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57
Q

Fetal alcohol syndrome

A
  • Alcohol is the most common teratogen
  • Small for gestational age
  • FTT
  • Microcephaly
  • Long smooth philtrum with a thin, smooth upper lip
  • Mental retardation
  • ADHD
  • Cardiac defects (VSD is most common)
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58
Q

Fetal phenytoin syndrome

A
  • Mild to moderate mental retardation
  • Cardiac defects
  • Growth retardation
  • Nail and digit abnormalities
  • Characteristic facial features
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59
Q

Alcohol associated anomalies

A
  • Microcephaly
  • Short palpebral fissures
  • Long, smooth philtrum
  • Variable mental retardation
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60
Q

Cigarette smoking associated anomalies

A
  • Small for gestational age

- Polycythemia

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61
Q

Cocaine associated anomalies

A
  • Intrauterine growth retardation
  • Microcephaly
  • Genitourinary tract abnormalities
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62
Q

Diethylstilbestrol associated anomalies

A
  • Increased risk of cervical carcinoma

- Genitourinary anomalies

63
Q

Isotretinoin associated anomalies

A
  • CNS malformations
  • Microtia
  • Cardiac defects
  • Thymic hypoplasia
64
Q

Phenytoin associated anomalies

A
  • Wide anterior fontanelle
  • Thick hair with a low hair line
  • Small nails
  • Cardiac defects
65
Q

Propylthiouracil associated anomalies

A
  • Hypothyroidism

- Goiter

66
Q

Thalidomide associated anomalies

A

Phocomelia (malformed extremities resulting in flipperlike appendages)

67
Q

Valproic acid associated anomalies

A
  • Narrow head
  • High forehead
  • Midface hypoplasia
  • Spina bifida
  • Cardiac defects
  • Convex nails
68
Q

Warfarin associated anomalies

A
  • Hypoplastic nose with a deep groove between the nasal ale and the nasal tip
  • Stippling of the epiphyses
  • Hypoplastic nails
69
Q

Defects in amino acid metabolism

A
  • Phenyketonuria
  • Maple syrup urine disease
  • Propionic acidemia
  • Isovaleric acidemia
  • Methylmalonic acidemia
  • Transient tyrosinemia of the newborn
  • Homocystinuria
  • Alkaptonuria
  • Ketotic hyperglycinemia
  • Membrane transport defects: Hartnup’s disease, cystinuria
70
Q

Urea cycle disorders

A
  • Transient hyperammonemia of the newborn
  • Ornithine transcarbamylase deficiency
  • Carbamyl phosphate synthetase deficiency
71
Q

Disorders of metal metabolism

A
  • Wilson’s disease
  • Hemochromatosis
  • Menke’s kinky hair disease
72
Q

Lysosomal storage disease

A

Gangliosidoses:

  • Tay-Sachs disease
  • Gaucher’s disease
  • Nieman-Pick disease
  • Metachromatic leukodystrophy
  • Krabbe disease
  • Fabry disease
  • Farber disease

Mycopolysacharidoses:

  • Hurler syndrome
  • Hunter syndrome
  • Sanfilippo syndrome
  • Morquio syndrome
73
Q

Defects in fatty acid oxidation

A
  • Medium chain acyl-CoA dehydrogenase deficiency
  • Long chain acyl-CoA dehydrogenase deficiency
  • Short chain acyl-CoA dehydrogenase deficiency
  • Carnitine palmitoyl transferase deficiency
74
Q

Defects in carbohydrate metabolism

A
  • Galactosemia
  • Hereditary fructose intolerance
  • Glycogen storage disease: type 1 (von gierke’s disease), type 2 (pompe’s disease)
75
Q

Mitochondrial disorders

A
  • Kearn-Sayre’s syndrome
  • MERRF
  • MELAS
76
Q

Defects in heme pigment biosynthesis

A
  • Acute intermittent porphyria
  • Erythropoietic porphyria
  • Porphyria cutanea tarda
  • Hereditary coproporphyria
77
Q

Mousey/musty odor

A

Phenylketonuria

78
Q

Sweet maple syrup odor

A

Maple syrup urine disease

79
Q

Sweaty feet odor

A

Isovaleric or glutaric acidemia

80
Q

Rotten cabbage odor

A

Hereditary tyrosinemia

81
Q

Hypoglycemia with ketosis

A
  • Organic academy

- Carbohydrate disease

82
Q

Serum NH3 greater than 200 mM

A

Urea cycle defects

83
Q

Elevated NH3 and metabolic acidosis

A

Organic acidemias

84
Q

Urinary ketones

A

Alway abnormal in a newborn

85
Q

Corrects acidosis

A

Sodium bicarbonate

86
Q

Increases ammonia excretion

A

Sodium benzoate and sodium phenylacetate

87
Q

Prevent bacterial production of ammonia in the colon

A

Oral neosporin and lactulose

88
Q

Rule out hypoglycemia

A

Serum glucose

89
Q

Rule out hypocalcemia, hypermagnesemia, or hypomagnesemia

A

Serum Ca and Mg

90
Q

Assess for anemia, neutropenia, thrombocytopenia

A

CBC with differential

91
Q

Assess for ketones

A

Urinalysis

  • Presence of ketones is esp suspicious in newborns because normally they do not produce ketones well
  • In older children, absence of ketones with hypoglycemia is suspicious for fatty acid oxidation defect
92
Q

Assess for anion gap metabolic acidosis

A

Arterial blood gas and serum electrolytes

93
Q

Urine-reducing substance

A
  • If positive, dipstick for glucose

- Non-glucose reducing substance is suggestive of galactosemia

94
Q

Rule out lactic academies or organic acidemias in presence of metabolic acidosis

A

Serum lactate and pyruvate

95
Q

Rule out aminoacidemia or organic academies in presence of metabolic acidosis

A

Plasma amino acids

96
Q

Increased ammonia with elevated plasma amino acids

A

Suspect aminoacidemias

97
Q

Increased ammonia with elevated urine organic acids

A

Suspect ornithine transcarbamylase

98
Q

Homocystinuria

A
  • Cystathione synthase deficiency

- AR

99
Q

Clinical features of homocystinuria

A
  • Marfanoid body habitus without arachnodactyly
  • Downward lens subluxation (in Marfan syndrome, lens subluxation is upward)
  • Hypercoagulable state increases risk of stroke, myocardial infarction and deep vein thrombosis
  • Cardiovascular abnormalities include mitral or aortic regurgitation
  • Aortic dilatation is absent (in contrast to Marfan syndrome)
  • Scoliosis and large stiff joints
  • Developmental delay, mild mental retardation and psychiatric illness
100
Q

Diagnosis of homocystinuria

A
  • Increased methionine in urine and plasma

- Positive urinary cyanide nitroprusside test

101
Q

Management of homocystinuria

A
  • Methionine restricted diet
  • Aspirin to decrease risk of thromboembolism
  • Folic acid and vitamin B6 supplementation
102
Q

Transient tyrosinemia of the newborn

A

Occurs in premature infants who receive high protein diets

103
Q

Clinical features of transient tyrosinemia of the newborn

A

Begin during the first 2 weeks of life and may include poor feeding and lethargy. May also be asymptomatic.

104
Q

Diagnosis of transient tyrosinemia of the newborn

A

Elevated tyrosine and phenylalanine

105
Q

Management of transient tyrosinemia of the newborn

A
  • Decreasing protein intake during acute episode

- Vitamin C may help eliminate tyrosine

106
Q

Cystinuria

A
  • AR
  • Defect in renal reabsorption of cystine, lysine, arginine and ornithine
  • Leads to renal stones
  • Clinical features: UTIs, dysuria, abdominal or back pain, urgency, polyuria
107
Q

Hartnup disease

A
  • AR
  • Defect in transport of neutral amino acids
  • Most patients are asymptomatic
  • Clinical features: intermittent ataxia, photosensitive rash, mental retardation, and emotional lability
108
Q

Transiet hyperammonemia of the newborn

A
  • Self limited
  • May present in premature infants within the initial 24-48 hours of life
  • Symptoms are non-specific
  • Clinical features: respiratory distress, alkalosis, vomiting, and lethargy rapidly progressing to coma
109
Q

Ornithine transcarbamylase deficiency

A
  • Most common urea cycle defect

- X linked recessive

110
Q

Clinical features of ornithine transcarbamylase deficiency

A
  • Begin at onset of protein ingestion
  • Vomiting and lethargy leading to coma
  • Some females with mild disease may present in childhood with cyclic vomiting and intermittent ataxia
111
Q

Diagnosis of ornithine transcarbamylase deficiency

A
  • Elevated urine orotic acid
  • Decreased serum citrulline
  • Increased ornithine
  • Liver biopsy
112
Q

Management of ornithine transcarbamylase deficiency

A
  • Low protein diet
  • Management of hyperammonemia
  • Liver transplant may be necessary
113
Q

Clinical features of phenylketonuria

A
  • Developmental delay
  • Infantile hypotonia
  • Mousy or musty odor
  • Progressive mental retardation
  • Eczema
  • Decreased pigment (light eyes and hair)
  • Mild PKU may present in early childhood with developmental delay, hyperactivity
114
Q

Diagnosis of phenylketonuria

A

Increased phenylalanine to tyrosine ratio in serum

115
Q

Management of phenylketonuria

A

Phenylalanine restricted diet

116
Q

Clinical features of maple syrup urine disease

A
  • Progressive vomiting and poor feeding
  • Lethargy, hypotonia, and coma
  • Developmental delay
  • Maple syrup odor in urine
  • Hypoglycemia and severe acidosis during episodes
117
Q

Diagnosis of maple syrup urine disease

A

Increased serum and urine branched chain amino acids

118
Q

Management of maple syrup urine disease

A

Dietary protein restriction

119
Q

Clinical features of tyrosinemia type I

A
  • Episodes of peripheral neuropathy
  • Chronic liver disease
  • Odor of rotten fish or cabbage odor
  • Renal tubular dysfunction
120
Q

Diagnosis of tyrosinemia type I

A

Succinylacetone in urine

121
Q

Management of tyrosinemia type I

A

Dietary restriction of phenylalanine, tyrosine and NTBC

122
Q

Galactosemia

A
  • AR
  • Galactose-1-phosphate uridyltransferase deficiency
  • Suspected in any newborn with hepatomegaly and hypoglycemia
123
Q

Clinical features of galactosemia

A
  • Begin after the newborn feeds a cow’s milk based formula or breastfeeds for the first time (both cow’s milk and breast milk contain galactose)
  • Vomiting, diarrhea, FTT
  • Hepatic dysfunction with hepatomegaly
  • Cataracts with a characteristic oil droplet appearance
  • Renal tubular acidosis
124
Q

Diagnosis of galactosemia

A
  • Nonglucose-reducing substance in urine
  • Confirmation of enzyme deficiency in RBCs
  • Prenatal and newborn screening are available
125
Q

Management of galactosemia

A

Galactose free diet, such as soy or elemental formulas

126
Q

Complications of galactosemia

A
  • Mental retardation if diagnosis is delayed
  • Nearly all females suffer from ovarian failure
  • Death in early infancy, typically from E coli sepsis, is common if the diagnosis is not suspected and treated
127
Q

Hereditary fructose intolerance

A
  • Fructose-1-phosphate aldolase B deficiency
  • Begins after introduction of fruit or fruit juice
  • Clinical features: severe hypoglycemia, vomiting, diarrhea, FTT, seizures
  • Management includes avoidance of fructose, sucrose and sorbitol
128
Q

Von Gierke’s disease

A
  • Glucose-6-phosphatase deficiency
  • Clinical features: persistent hypoglycemia, hepatomegaly, metabolic acidosis, hypertriglyceridemia and enlarged kidneys
  • Management includes frequent feeding with high complex carb diet
  • Patients are at risk for hepatocellular carcinoma
129
Q

Pompe’s disease

A
  • Alpha glucosidase deficiency
  • Should be suspected in any infant with muscular weakness and cardiomegaly
  • Present within first 2 weeks with flaccid weakness, poor feeding, progressive cardiomegaly, hepatomegaly and acidosis
130
Q

Nonketotic hypoglycemia, hyperammonemia, myopathy and cardiomyopathy

A

Fatty acid oxidation defect

131
Q

Kearns-Sayre syndrome

A
  • Ophthalmoplegia
  • Pigmentary degeneration of the retina
  • Hearing loss
  • Heart block
  • Neurologic degeneration
132
Q

MELAS

A

Mitochondrial Encephalopathy, Lactic Acidosis and Stroke like episodes

133
Q

Tay-Sachs disease

A

Hexosaminidase A deficiency

134
Q

Clinical features of Tay-Sachs disease

A

Infantile onset TS disease:

  • Presents early in infancy
  • Decreasing eye contact
  • Hypotonia
  • Mild motor weakness
  • Increased startle as a result of hyperacusis (increased sensitivity to sound)
  • Macrocephaly
  • Cherry red macula
  • Progressive blindness, seizures, and severe developmental delay

Juvenile or adult onset TS disease:

  • After 2 year
  • Ataxia
  • Dysarthria
  • Choreoathetosis
  • Cherry red macula is absent
135
Q

Diagnosis of Tay-Sachs disease

A

Decreased hexosaminidase A activity in leukocytes or fibroblasts

136
Q

Gaucher’s disease

A
  • Glucocerebrosidase deficiency
  • Most common gangliosidosis
  • Clinical features: hepatosplenomegaly, thrombocytopenia, Erlenmeyer flask-shape to distal femur
137
Q

Niemann-Pick disease

A
  • Sphingomyelinase deficiency

- Clinical features: neurodegeneration, ataxia, seizures, hepatosplenomegaly, cherry red macula

138
Q

Metachromatic leukodystrophy

A
  • Arylsulfatase A deficiency

- Clinical features: ataxia, seizures, and progressive mental retardation

139
Q

Dysostosis multiplex

A
  • Associated with mucopolysaccharidoses
  • Constellation of bony abnormalities that include a thickened cranium
  • J shaped sella turcica
  • Malformed, ovoid or beaklike vertebrae
  • Short and thickened clavicles
  • Oar shaped ribs
140
Q

Hurler syndrome

A
  • Alpha-L-iduronidase deficiency

- Most severe mucopolysaccharidosis

141
Q

Clinical features of Hurler syndrome

A
  • Begin after 1 year
  • Developmental delay
  • Hepatosplenomegaly
  • Kyphosis
  • Progressively coarsened facial features
  • Frontal bossing
  • Prominent safittal and metopic sutures
  • Wide nasal bridge
  • Thickening of the nasopharyngeal tissues
  • Hydrocephalus
  • Corneal clouding
  • Progressively stiff and contracted joints
142
Q

Diagnosis of Hurler syndrome

A

Finding dermatan and heparan sulfate in the urine and decreased alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts

143
Q

Hunter syndrome

A

Inherited X linked recessive

144
Q

Clinical features of Hunter syndrome

A
  • Hepatosplenomegaly
  • Hearing loss
  • Progressively stiff and contracted joints
  • Small papillose over shoulder, scapula and lower back
  • Dysostosis multiplex
  • NO corneal clouding
145
Q

Diagnosis of Hunter syndrome

A

Finding dermatan and heparan sulfate in the urine and decreased alpha-L-iduronidase enzyme activity in leukocytes or fibroblasts

146
Q

Sanfilippo syndrome

A

Characterized by rapid and severe mental and motor retardation

147
Q

Morquio syndrome

A
  • Differs from other mucopolysaccharidoses in that mental retardation is ABSENT
  • Severe scoliosis leading to cor pulmonale results in death
148
Q

Diagnosis of porphyrias

A

Increased serum and urine porphobilinogen

149
Q

Management of porphyrias

A
  • IV glucose
  • Correction of electrolyte abnormalities
  • Avoidance of fasting and precipitating drugs
150
Q

Wilson’s disease

A
  • AKA hepatolenticular degeneration

- Defect in copper excretion that causes copper deposition initially in the liver, followed by the brain, eyes and heart

151
Q

Clinical features of Wilson’s disease

A
  • Keyser-Fleischer rings in the peripheral cornea (deposition in Descemet’s membrane)
  • Ataxia
  • Seizures
  • Behavioral changes
  • Dystonia
  • Dysarthria
  • Tremors
152
Q

Diagnosis of Wilson’s disease

A
  • Decreased serum ceruloplasmin is the most commonly used screening test
  • Elevated serum and urine copper
  • Copper deposition in hepatocytes obtained by liver biopsy
153
Q

Management of Wilson’s disease

A
  • Avoid copper containing food (e.g. nuts, liver, shellfish, and chocolate)
  • Chelation therapy with penicillamine and zinc salts to prevent absorption
  • Liver transplant
154
Q

Menkes kinky-hair disease

A
  • X linked recessive
  • Abnormal copper transport
  • LOW serum copper (this is high in Wilson’s disease)
  • Clinical features: myoclonic seizures, pale kinky friable hair, optic nerve atrophy, severe mental retardation, progressive neurologic degeneration and early death
  • Diagnosis: typical hair findings, low serum ceruloplasmin, low serum copper

Pediatrics (11 decks)

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