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Clinical Presentations - Step 1 > Biochemistry - Reversed > Flashcards

Biochemistry - Reversed Flashcards

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1
Q

Lesch-Nyhan syndrome

A

intellectual disability, self-mutilations, aggression, hyperuricemia, gout, dystonia, macrocytosis

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2
Q

xeroderma pigmentosum

A

dry skin, photosensitivity, skin cancer

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3
Q

Zellweger syndrome

A

hypotonia, seizures, jaundice, craniofacial dysmorphia, hepatomegaly, early death, PEX mutation

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4
Q

Refsum disease

A

scaly skin, ataxia, cataracts/night blindiness, shortening of the 4th toe, epiphyseal dysplasia

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5
Q

Adrenoleukodystrophy

A

VLCFA buildup in adrenal glands, white matter, and testes

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6
Q

Primary ciliary dyskinesia

A

situs inversus, hearing loss, sinusitis, ear infections, bronchiectasis, infertility, increased risk of ectopic pregnancy, decreased nasal nitric oxide

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7
Q

Osteogenesis imperfecta

A

multiple bone deformities, blue sclerae, tooth abnormalities, conductive hearing loss

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8
Q

Ehler’s-Danlos syndrome

A

hyperextensible skin, hypermobile joints, joint dislocation, berry and aortic aneurysms, organ rupture, gravid uterus

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9
Q

Menkes disease

A

brittle hair, growth and developmental delay, hypotonia, increased risk of cerebral aneurysms

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10
Q

Marfan syndrome

A

long extremities, chest wall deformity, hypermobile joints, long fingers and toes, cystic medial necrosis of the aorta, aortic root aneurysm / rupture / dissection, mitral valve prolapse, increased risk of spontaneous pneumothorax

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11
Q

Homocystinuria

A

pectus deformity, tall stature, increased arm:height ratio, decreased upper:lower body segment ratio, arachnodactly, joint hyperlaxity, skin hyperelasticity, scoliosis

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12
Q

McCune-Albright syndrome

A

unilateral cafe-au-lait spots with ragged edges, polyostotic fibrous dysplasia, at least one endocrinopathy

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13
Q

Prader-Willi

A

hyperphagia, obesity, intellectual disability, hypogonadism, hypotonia

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14
Q

Angelman syndrome

A

seizures, ataxia, severe intellectual disability, inappropriate laughter

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15
Q

cystic fibrosis

A

recurrent pulmonary infections, allergic bronchopulonary aspergillosis, chronic bronchitis and bronchiectasis, reticulonodular pattern on CXR, opacification of sinuses, nasal polyps, nail clubbing, pancreatic insufficiency, malabsorption with steatorrhea, fat soluble vitamin [A. D. E. K.] deficiencies, meconium ileus in newborns, infertility in males, subfertility in females

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16
Q

Duchenne muscular dystrophy

A

muscle weakness starting from pelvic girdle and progressing superiorly, pseudohypertrophy of calf muscles, waddling gait, onset before 5 years of age, increased risk of dilated cardiomyopathy, gower’s sign

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17
Q

Becker muscular dystrophy

A

muscle weakness starting from pelvic girdle and progressing superiorly, pseudohypertrophy of calf muscles, waddling gait, onset before 5 years of age, increased risk of dilated cardiomyopathy, gower’s sign

less severe due to non-frameshift mutation

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18
Q

Myotonic dystrophy

A

myotonia, muscle wasting, cataracts, testicular atrophy, frontal balding, arrhythmia

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19
Q

MELAS

A

mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes

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20
Q

MERRF

A

myoclonic epilepsy with ragged red fibers

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21
Q

Leber hereditary optic neuropathy

A

neuronal death of the retina and optic nerve, subacute bilateral vision loss in teens/young adults/ usually permanent, possibly tremors, multiple sclerosis-like illness

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22
Q

Rett syndrome

A

females between age 1-4, regression in motor, verbal, and cognitive abilities, ataxia, seizures, growth deceleration, and stereotyped hand-wringing

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23
Q

Fragile X syndrome

A

tremor, ataxia, primary ovarian insufficiency, postpubertal macroorchidism, long face with long jaw, large everted ears, autism, mitral valve prolapse, hypermobile joints, self mutation, CGG trinucleotide repeat

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24
Q

Huntington disease

A

CAC trinucleotide repeats

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25
Myotonic dystrophy
CTG trinucleotide repeats
26
Friedrich ataxia
GAA trinucleotide repeat
27
Down's syndrome
intellectual disability, flat facies, prominent epicanthal folds, single palmar crease, incurved 5th finger, gap between 1st and second toes, duodenal atresia, hirschprung disease, congenital heart disease, Brushfield spots, early onset alzheimer's, increased risk of AML/ALL
28
Edwards syndrome
prominent occiput, rocker-bottom feet, intellectual disability, nondisjunction, clenched fists with overlapping fingers, low set ears, micrognathia, congenital heart disease, omphalocele, myelomeningocele, death by age 1
29
Patau syndrome
severe intellectual disability, rocker-bottom feet, microopthalmia, microcephaly, cleft lip/palate, holoprosencephaly, polydactly, cutis aplasia, congenital heart (pump) disease, polycystic kidney disease, omphalocele, death occurs by age 1
30
Cri-du-chat syndrome
microcephaly, moderate to severe intellectual disability, high pitched crying, epicanthal folds, cardiac abnormalities [ventricular septal defect]
31
Williams syndrome
elfin facies, intellectual disability, hypercalcemia, well developed verbal skills, extreme friendliness with strangers, cardiovascular problems [supravalvular aortic stenosis, renal artery stenosis]
32
Vitamin A deficiency
night blindness, dry scaly skin, dry eyes, conjunctival squamous metaplasia, bitot spots, corneal degeneration, immunosuppression
33
Wenicke encephalopathy
confusion, opthalmoplegia, nystagmus, ataxia
34
Korsakoff syndrome
amenstic, confabulations, personality changes, permanent memory loss, B1 deficiency
35
Wernicke-Korsakoff syndrome
confusion, opthalmoplegia, nystagmus, ataxia, confabulations, personalty changes, memory loss, damage of medial dorsal nucleus of the thalamus
36
Dry beriberi
polyneuropathy, symmetric muscle wasting, B1 deficiency
37
Wet beriberi
High output cardiac failure due to systemic vasodilation, B1 deficiency
38
Vitamin B2 deficiency
cheilosis [inflammation of the lips, scaling and fissures at the corners of the mouth] mangenta tongue, corneal vascularization
39
Vitamin B3 deficiency
glossitis, pellagra, malignant carcinoid syndrome, diarrhea, dementia, dermatitis, hyperpigmentation of sun exposed limgs
40
Vitamin B5 deficiency
dermatitis, enteritis, alopecia, adrenal insufficiency leading to burning sensation of the feet
41
Vitamin B6 deficiency
convulsions, hyperirritability, peripheral neuropathy, sideroblastic anemia
42
Vitamin B7 deficiency
Dermatitis, enteritis, alopecia, caused by long term antibiotic use
43
Vitamin B9 deficiency
macrocytic, megaloblastic anemia, glossitis, increased homocysteine, normal methylmalonic acid
44
Vitamin B12 deficiency
macrocytic, megaloblastic anemia, hypersegmented polymorphonuclear cells, subacute combined degeneration of the dorsal columns, lateral corticospinal tracts, and spinocerebellar tracts, increased homocysteine and methylmalonic acid, secondary folate deficiency
45
Vitamin C deficiency
swollen gums, easy bruising, petechiae, hemarthrosis, anemia, poor wound healing, perifollicular and subperiosteal hemorrhages, corkscrew hair, weakened immune response
46
Vitamin D deficiency
bone deformity, osteomalacia in adults, hypocalcemic tetany
47
Vitamin E deficiency
hemolytic anemia, acanthocytosis, muscle weakness, demyelination of posterior columns and spinocerebellar tract
48
Vitamin K deficiency
neonatal hemorrhage with increased PT and aPTT, normal bleeding time, after prolonged use of broad spectrum antibiotics
49
Zinc deficiency
delayed wound healing, suppressed immunity, male hypogonadism, decreased adult hair [axillary, facial, pubic], dysgeusia, anosmia, associated with acrodermatitis enteropathica, may predispose to alcoholic cirrhosis
50
Kwashiorkor
malnutrition, edema, anemia, fatty liver, skin lesions [hyperkeratosis, dyspigmentation]
51
Marasmus
malnutrition without edema, muscle wasting
52
Pyruvate dehydrogenase complex deficiency
neurologic defects, lactic acidosis, increased serum alanine starting in infancy
53
Glucose-6-phosphate dehydrogenase deficiency
fava beans, sulfonamides, nitrofurantoin, primaquine/chloroquine/antituberulosis drugs, infection, precipitates hemolysis, X-linked recessive, sub-Saharan Africa, Southeast Asia, heinz bodies, bite cells
54
Essential fructosuria
fructose in blood and urine
55
Hereditary fructose intolerance
hypoglycemia, jaundice, cirrhosis, and vomiting following consumption of fruit, juice, or honey
56
Galactokinase deficiency
galactosemia and galactosuria, infantile cataracts
57
Classic galactosemia
failure to thirve, jaundice, hepatomegaly, infantile cataracts, intellectual disability, begins when an infant starts to feed
58
Aldose reductase deficiency
cataracts, retinopathy, peirpheral neuropathy
59
Lactase deficiency
Bloating, cramps, flatulence, osmotic diarrhea
60
hyperammonemia
flapping tremor [asterixis], slurring of speech, somnolence, vomiting, cerebral edema, blurring of vision, increased ammonia, decreased GABA, decreased a-ketoglutarate
61
Orinthine transcarbamylase deficiency
increased orotic acid in the blood and urine, decreased BUN, symptoms of hyperammonemia
62
Phenylketonuria
intellectual disabillity, microcephaly, seizures, hypopigmented skin, eczema, musty body odor
63
Maple syrup urine disease
vomiting, poor feeding, urine smelling like maple syrup/burnt sugar, progressive neurological decline
64
Alkaptonuria
bluish-black connective tissue, ear cartilage, sclerae, urine turns black on prolonged exposure to air, may have debilitating arthralgias
65
Homocystinuria
osteoporosis, marfanoid habitus, ocular changes, thrombosis and atherosclerosis leading to stroke and MI, kyphosis, intellectual disability, hypopigmented skin, increased homocysteine in urine
66
Cystinuria
hexagonal cystine stones
67
Propionic acidemia
poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, decreased propionyl-CoA, decreased methylmalonic acid
68
Methylmalonic acidemia
poor feeding, vomiting, hypotonia, high anion gap metabolic acidosis, hepatomegaly, seizures, deficiency of methylmalonyl-CoA mutase or vitamin B12
69
Von Gierke disease
severe fasting hypoglycemia, increased glycogen in the liver and kidneys, increased blood lactate, increased triglycerides, increased uric acid [gout], hepatomegaly, renomegaly
70
Pompe disease
cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death
71
Cori disease
Cardiomyopathy, hypotonia, exercise intolerance, enlarged tongue, systemic findings leading to early death, not as severe, normal blood lactate
72
Andersen disease
hepatosplenomegaly, failure to thrive in early infancy, infantile cirrhosis, muscular weakness, hypotonia, cardiomyopathy, early childhood death
73
McArdle disease
painful muscle cramps, myoglobinuria with strenuous exercise, arrhythmia from electrolyte abnormalities, second wind phenomenon
74
Tay-Sachs disease
progressive neurodegeneration, developmental delay, hyperreflexia, hyperacusis, cherry red spot on macula, lysosomes with onion skin
75
Fabry disease
episodic neuropathy, angiokeratomas, hypohidrosis, progressive renal failure, cardiovascular disease
76
Metachromatic leukodystrophy
Central and peripheral demyelination with ataxia and demenita
77
Krabbe disease
Peripheral neuropathy, destruction of oligodendrocytes, developmental delay, optic atrophy, globoid cells
78
Gaucher disease
hepatosplenomegaly, pancytopenia, osteoporosis, avascular necrosis of the femur, bone crises, Gaucher cells
79
Niemann-Pick disease
Progressive neurodegeneration, hepatosplenomegaly, foam cells, cherry red spot on the macula
80
Hurler syndrome
developmental delay, skeletal abnormalities, airway obstruction, corneal clouding, hepatosplenomegaly
81
Hunter syndrome
Mild Hurler syndrome and aggressive behavior, no corneal clouding
82
Systemic 1* carnitine deficiency
weakness, hypotonia, hypoketotic hypoglycemia, dilated cardiomyopathy
83
Medium-chain acyl-CoA dehydrogenase deficiency
vomiting, lethargy, seizures, coma, liver dysfunction, hyperammonemia, can lead to sudden death in infants or children
84
Abetalipoproteinemia
severe fat malabsorption, steatorrhea, failure to thirve, later manifesting retinitis pigmentosa, spinocerebellar degeneration due to vitamin E deficiency, progressive ataxia, acanthocytosis, lipid-laden enterocytes
85
Familial dyslipidemia type I hyperchlomicronemia
pancreatitis, hepatosplenomegaly, eruptive/pruritic xanthomas, creamy layer in supernatant
86
Familial dyslipidemias type II hypercholesterolemia
accelerated atherosclerosis [MI before age 20], tendon [achilles] xanthomas, corneal arcus
87
Familial dyslipidemias type III dysbetalipoproteinemia
Premature atherosclerosis, tuberoeruptive and palmar xanthomas
88
Familial dyslipidemias type IV hypertriglyceridemia
Hypertriglyceridemia >1000 mg/dL, can cause acute pancreatitis, related to insulin resistance
89
MERRF
myoclonic epilepsy with ragged red fibers

Clinical Presentations - Step 1 (2 decks)

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