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Flashcards in Genetic Disorders Deck (69):
1

XXXXX

Inheritance: XL Rec

Disorder: Absent HGPRT

  • Normally converts IMP to GMP in purine salvage pathway
  • Excess uric acid production

Sxs:

  • Intellectual disability
  • Self-mutilation
  • Aggression
  • Hyperuricemia (orange sand in diaper due to crystals)
  • Gout
  • Dystonia

Other Notes: 

Lesch-Nyhan Syndrome

2

Lesch-Nyhan Syndrome

Inheritance: XXXXX

Disorder: XXXXX​

Sxs:

Intellectual disability

Self-mutilation

Aggression

Hyperuricemia (orange sand in diaper due to crystals)

Gout

Dystonia

Other Notes: 

Inheritance: XL Rec

Disorder: Absent HGPRT

Normally converts IMP to GMP in purine salvage pathway

Excess uric acid production

3

Lesch-Nyhan Syndrome

Inheritance: XL Rec

Disorder: Absent HGPRT

Normally converts IMP to GMP in purine salvage pathway

Excess uric acid production

Sxs: XXXXX

Sxs:

Intellectual disability

Self-mutilation

Aggression

Hyperuricemia (orange sand in diaper due to crystals)

Gout

Dystonia

4

XXXXX

Inheritance: Auto Dom

Disorder: Decreased production of Type I Collagen (COL1AI or COL1A2 gene)

Sxs:

  • Fractures with minimal trauma
  • Blue sclerae
  • Tooth abnormalities
  • Hearing loss

Other Notes: may be confused with child abuse

Osteogenesis Imperfecta

5

Osteogenesis Imperfecta

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Fractures with minimal trauma

Blue sclerae

Tooth abnormalities

Hearing loss

Other Notes: may be confused with child abuse

Inheritance: Auto Dom

Disorder: Decreased production of Type I Collagen (COL1AI or COL1A2 gene)

6

Osteogenesis Imperfecta

Inheritance: Auto Dom

Disorder: Decreased production of Type I Collagen (COL1AI or COL1A2 gene)

Sxs: XXXXX

Other Notes: may be confused with child abuse

Sxs:

Fractures with minimal trauma

Blue sclerae

Tooth abnormalities

Hearing loss

7

XXXXX

Inheritance: Auto dom or recessive

Disorder: Mutation in Type V Collagen (COL5A1 or A2)

Sxs:

  • Hyperextensibility of joints, skin
  • Easy bruising
  • Some types associated with berry/aortic aneurysms and their rupture (defect in Type III Collagen)

Ehlers-Danlos Syndrome

8

Ehlers-Danlos Syndrome

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Hyperextensibility of joints, skin

Easy bruising

Some types associated with berry/aortic aneurysms and their rupture (defect in Type III Collagen)

Inheritance: Auto dom or recessive

Disorder: Mutation in Type V Collagen (COL5A1 or A2)

9

Ehlers-Danlos Syndrome

Inheritance: Auto dom or recessive

Disorder: Mutation in Type V Collagen (COL5A1 or A2)

Sxs: XXXXX

Hyperextensibility of joints, skin

Easy bruising

Some types associated with berry/aortic aneurysms and their rupture (defect in Type III Collagen)

10

XXXXX

Inheritance: XL R

Disorder: Defective menkes protein, leads to impaired copper absorption/transport

Decreased activity of lysyl oxidase (Cu is a cofactor)

Sxs:

  • Brittle, kinky hair
  • Growth retardation
  • Hypotonia

Menkes Disease

11

Menkes Disease

Inheritance: XXXXX

Disorder: XXXXX

Decreased activity of lysyl oxidase (Cu is a cofactor)

Sxs:

Brittle, kinky hair

Growth retardation

Hypotonia

Inheritance: XL R

Disorder: Defective menkes protein, leads to impaired copper absorption/transport

12

Menkes Disease

Inheritance: XL R

Disorder: Defective menkes protein, leads to impaired copper absorption/transport

Decreased activity of lysyl oxidase (Cu is a cofactor)

Sxs: XXXXX

Sxs:

Brittle, kinky hair

Growth retardation

Hypotonia

13

XXXXX

Inheritance: Auto Dom

Disorder: FBN1 on C15 mutation, defective fibrillin

Usually forms connective sheath around Elastin

Sxs:

  • Tall with long extremeties
  • Hypermobile joints
  • Long, tapering digits
  • Cystic medial necrosis of aorta (aortic incompetence)
  • Dissecting aorta
  • Floppy mitral valve 

Marfan Syndrome

14

Marfan Syndrome

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Tall with long extremities 

Hypermobile joints

Long, tapering digits

Cystic medial necrosis of aorta (aortic incompetence)

Dissecting aorta

Floppy mitral valve 

Inheritance: Auto Dom

Disorder: FBN1 on C15 mutation, defective fibrillin

Usually forms connective sheath around Elastin

15

Marfan Syndrome

Inheritance: Auto Dom

Disorder: FBN1 on C15 mutation, defective fibrillin

Usually forms connective sheath around Elastin

Sxs: XXXXX

Tall with long extremities

Hypermobile joints

Long, tapering digits

Cystic medial necrosis of aorta (aortic incompetence)

Dissecting aorta

Floppy mitral valve 

16

XXXXX

Inheritance: Maternal imprinting

Disorder: Gene on C15. Paternal gene is deleted/mutated

25% due to maternal disomy.

Sxs:

  • Hyperphagia (severe)
  • Obesity
  • Intellectual disability
  • Hypogonadism
  • Hypotonia

Praeder Willi Syndrome

17

Prader-Willi Syndrome

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Hyperphagia (severe)

Obesity

Intellectual disability

Hypogonadism

Hypotonia

Inheritance: Maternal imprinting

Disorder: Gene on C15. Paternal gene is deleted/mutated

25% due to maternal disomy.

18

Prader-Willi Syndrome

Inheritance: Maternal imprinting

Disorder: Gene on C15. Paternal gene is deleted/mutated

25% due to maternal disomy.

Sxs: XXXXX

Sxs:

Hyperphagia (severe)

Obesity

Intellectual disability

Hypogonadism

Hypotonia

19

XXXXX

Inheritance: Paternal imprinting

Disorder: Silent maternal gene on C15

5% of cases due to paternal disomy

Sxs:

  • Inappropriatte laughter 
  • Seizures
  • Ataxia
  • Severe intellectual disability

Angelman Syndrome

20

Angelman Syndrome

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Inappropriatte laughter 

Seizures

Ataxia

Severe intellectual disability

Inheritance: Paternal imprinting

Disorder: Silent maternal gene on C15

5% of cases due to paternal disomy

21

Angelman Syndrome

Inheritance: Paternal imprinting

Disorder: Silent maternal gene on C15

5% of cases due to paternal disomy

Sxs: XXXXX

Inappropriate laughter

severe intellectual disability

Seizures

Ataxia

22

XXXXX

Inheritance: Auto Rec

Disorder: C7 CFTR gene

Encodes ATP gated Cl- channel, decreased Cl- and H20 secretion, abnormally thick mucus secretions

Sxs: 

  • Recurrent RIs (Staph, Pseudomonas)
  • Pancreatic insufficiency, Vitamin A, D, E, and K insufficiency
  • nasal polyps
  • Clubbing

Other Notes: Dx with sweat chloride test 

Cystic Fibrosis

23

Cystic Fibrosis

Inheritance: XXXXX

Disorder: XXXXX

Sxs: 

Recurrent RIs (Staph, Pseudomonas)

Pancreatic insufficiency, Vitamin A, D, E, and K insufficiency

nasal polyps

Clubbing

Other Notes: Dx with sweat chloride test 

Inheritance: Auto Rec

Disorder: C7 CFTR gene

Encodes ATP gated Cl- channel, decreased Cl- and H20 secretion, abnormally thick mucus secretions

24

Cystic Fibrosis

Inheritance: Auto Rec

Disorder: C7 CFTR gene

Encodes ATP gated Cl- channel, decreased Cl- and H20 secretion, abnormally thick mucus secretions

Sxs: XXXXX

Dx: XXXXX

Sxs: 

Recurrent RIs (Staph, Pseudomonas)

Pancreatic insufficiency, Vitamin A, D, E, and K insufficiency

nasal polyps

Clubbing

Other Notes: Dx with sweat chloride test 

25

XXXXX

Inheritance: XL

Disorders: Frameshift/nonsense mutations leading to truncated or absent dystrophin protein 

Results in progressive myofiber damage. Dystrophin helps anchor muscle fibers.

Sxs:

  • Weakness (beginning in pelvic girdle and superiorly progressses)
  • Pseudohypertrophy of calves 
  • Waddling gait
  • Cardiomyopathy

Dx: CK and Aldolase increased

Duchenne Muscular Dystrophy

26

Duchenne Muscular Dystrophy (DMD)

Inheritance: XXXXX

Disorders: XXXXX

Sxs:

Weakness (beginning in pelvic girdle and superiorly progressses)

Pseudohypertrophy of calves 

Waddling gait

Cardiomyopathy

Dx: CK and Aldolase increased

Inheritance: XL

Disorders: Frameshift/nonsense mutations leading to truncated or absent dystrophin protein 

Results in progressive myofiber damage. Dystrophin helps anchor muscle fibers.

27

Duchenne Muscular Dystrophy (DMD)

Inheritance: XL

Disorders: Frameshift/nonsense mutations leading to truncated or absent dystrophin protein 

Results in progressive myofiber damage. Dystrophin helps anchor muscle fibers.

Sxs: XXXXX

Dx: XXXXX

Sxs:

Weakness (beginning in pelvic girdle and superiorly progressses)

Pseudohypertrophy of calves 

Waddling gait

Cardiomyopathy

Dx: CK and Aldolase increased

28

XXXXX

Inheritance: XL

Disorder: Non-frameshift deletion in dystrophin gene (less severe DMD)

Sxs:

  • Weakness presenting in adolescence/early adulthood

Becker Muscular Dystrophy

 

29

Becker Muscular Dystrophy

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Weakness presenting in adolescence/early adulthood

Inheritance: XL

Disorder: Non-frameshift deletion in dystrophin gene (less severe DMD)

30

XXXXX

Inheritance: Auto Dom

Disorder: CTG trinucleotide repeat in DMPK gene

Leads to abnormal myotonin protein kinase expression

Sxs:

  • Myotonia (cannot relax muscles after exertion)
  • Muscle wasting
  • Cataracts
  • Testicular atrophy
  • Frontal balding
  • Arrhythmia

Myotonic Muscular Dystrophy

31

Myotonic Muscular Dystrophy (MMD)

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Myotonia (cannot relax muscles after exertion)

Muscle wasting

Cataracts

Testicular atrophy

Frontal balding

Arrhythmia

Inheritance: Auto Dom

Disorder: CTG trinucleotide repeat in DMPK gene

Leads to abnormal myotonin protein kinase expression

32

Myotonic Muscular Dystrophy

Inheritance: Auto Dom

Disorder: CTG trinucleotide repeat in DMPK gene

Leads to abnormal myotonin protein kinase expression

Sxs: XXXXX

Myotonia

Muscle wasting

Cataracts

Testicular atrophy

Frontal balding

Arrhythmia

33

XXXXX
Inheritance: XL Dom

Disorder: CGG expansion in FMR1 gene. Leads to hypermethylation and decreased expression.

Sxs:

  • Intellectual disability
  • enlarged testes
  • Long face with large jaw
  • Everted ears
  • Mitral valve prolapse

Notes: most common ID in males

Fragile X Syndrome

34

Fragile X Syndrome (FXS)
Inheritance: XXXXX

Disorder: XXXXX 

Sxs:

Intellectual disability

enlarged testes

Long face with large jaw

Everted ears

Mitral valve prolapse

Notes: most common ID in males

Inheritance: XL Dom

Disorder: CGG expansion in FMR1 gene. Leads to hypermethylation and decreased expression.

35

Fragile X Syndrome (FXS)
Inheritance: XL Dom

Disorder: CGG expansion in FMR1 gene. Leads to hypermethylation and decreased expression.

Sxs: XXXXX

Notes: XXXXX

Sxs:

Intellectual disability

enlarged testes

Long face with large jaw

Everted ears

Mitral valve prolapse

Notes: most common ID in males

36

CAG trinucleotide expansion

Decreased ACh and GABA signaling

Huntington Disease

37

GAA trinucleotide expansion

Ataxia, poor gait

Friedrich Ataxia

38

XXXXX

Disorder: Trisomy 21

95% due to meiotic nondisjunction (increased risk with maternal age), 4% due to Robertsonian translocation, 1% mosaicism

Sxs:

  • Intellectual disability
  • Flat facies
  • Prominent epicanthal folds
  • Gap between 1st and 2nd toes
  • Duodenal atresia
  • AV septal defects (other congenital heart defects)
  • Increased Leukemia risk
  • Hirschsprung dx (large colon - difficulty moving stool)
  • Brushfield spots (spots on iris)

 

Down Syndrome

 

39

Down Syndrome

Disorder: XXXXX

Sxs: XXXXX

Down Syndrome

Disorder: Trisomy 21

95% due to meiotic nondisjunction (increased risk with maternal age), 4% due to Robertsonian translocation, 1% mosaicism

Sxs:

Intellectual disability

Flat facies

Prominent epicanthal folds

Gap between 1st and 2nd toes

Duodenal atresia

AV septal defects (other congenital heart defects)

Increased Leukemia risk

Hirschsprung dx (large colon - difficulty moving stool)

Brushfield spots (spots on iris)

40

XXXXX

Disorder: XXXXX

Sxs: 

  • Prominent occiput
  • Rocker-bottom feet
  • Intellectual disability
  • Clenched fist with overlapping fingers
  • Low set ears
  • Micrognathia (small jaw)
  • Congenital heart defects
  • Death before age 1

Edwards Syndrome

Disorder: Trisomy 18 (meiotic nondisjunction)

Sxs: 

  • Prominent occiput
  • Rocker-bottom feet
  • Intellectual disability
  • Clenched fist with overlapping fingers
  • Low set ears
  • Micrognathia (small jaw)
  • Congenital heart defects
  • Death before age 1

41

Edwards Syndrome

Disorder: Trisomy 18 (meiotic nondisjunction)

Sxs: XXXXX

Prominent occiput

Rocker-bottom feet

Intellectual disability

Clenched fist with overlapping fingers

Low set ears

Micrognathia (small jaw)

Congenital heart defects

Death before age 1

42

XXXXX

Disorder: XXXXX

Sxs:

  • Severe ID
  • Rocker bottom feet
  • Microphthalmia
  • Microcephaly
  • Cleft lip/palate
  • Holoprosencephaly
  • Polydactyly
  • Cutis aplasia
  • congenital heart Dx
  • Death before age 1

Patua Syndrome

Disorder: Trisomy 13

 

43

Patua Syndrome

Disorder: Trisomy 13

Sxs: XXXXX

Severe ID

Rocker bottom feet

Microphthalmia

Microcephaly

Cleft lip/palate

Holoprosencephaly

Polydactyly

Cutis aplasia

congenital heart Dx

Death before age 1

44

XXXXX

Disorder: XXXXX

Sxs:

  • Microcephaly
  • ID
  • High-pitched crying/meowing noise
  • Epicanthal folds
  • Cardiac abnormalities (VSD)

Cri-du-Chat Syndrome

Disorder: Microdeletion on 5p arm (short arm)

Sxs:

  • Microcephaly
  • ID
  • High-pitched crying/meowing noise
  • Epicanthal folds
  • Cardiac abnormalities (VSD)

45

Cri-du-Chat Syndrome

Disorder: Microdeletion on 5p arm (short arm)

Sxs: XXXXX

Microcephaly

ID

High-pitched crying/meowing noise

Epicanthal folds

Cardiac abnormalities (VSD)

46

XXXXX

Disorder: XXXXX

Sxs:

  • "Elvish" face
  • ID
  • Hypercalcemia 
  • Verbal acuity
  • Extremely friendly to strangers
  • CV defects

Williams Syndrome

Disorder: microdeletion on 7q (long arm); lost elastin gene

Sxs:

  • "Elvish" face
  • ID
  • Hypercalcemia 
  • Verbal acuity
  • Extremely friendly to strangers
  • CV defects

47

Williams Syndrome

Disorder: microdeletion on 7q (long arm); lost elastin gene

Sxs: XXXXX

"Elvish" face

ID

Hypercalcemia 

Verbal acuity

Extremely friendly to strangers

CV defects

48

49

DiGeorge Syndrome

Disorder: 22q11 deletion

Sxs: *Variable presentations

  • Cleft palate
  • Abnormal facies (long)
  • Thymic aplasia (T cell deficiency)
  • CV defects
  • Hypocalecmia (parathryoid aplasia)
  • *Due to 3/4th brachial pouch poor development

DiGeorge Syndrome

22q11 deletion

50

DiGeorge Syndrome

Disorder: 22q11 deletion

Sxs: *Variable presentations

XXXXX

Cleft palate

Abnormal facies (long)

Thymic aplasia (T cell deficiency)

CV defects

Hypocalecmia (parathryoid aplasia)

*Due to 3/4th brachial pouch poor development

51

Pyruvate Dehydrogenase Deficiency

Inheritance: XL

Disorder: Defect in PDH complex

Sxs:

  • Neuro defects
  • Lactic acidosis
  • Increased serum alanine
  • Hypotonia

Trt: increase ketogenic nutrients, increase lysine/leucine intake (ketogenic AAs) 

XXXXX

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

  • Neuro defects
  • Lactic acidosis
  • Increased serum alanine
  • Hypotonia

Trt: increase ketogenic nutrients, increase lysine/leucine intake (ketogenic AAs) 

52

Pyruvate Dehydrogenase Deficiency

Inheritance: XL

Disorder: Defect in PDH complex

Sxs: XXXXX

Trt: XXXXX

Neuro defects

Lactic acidosis

Increased serum alanine

Hypotonia

Trt: increase ketogenic nutrients, increase lysine/leucine intake (ketogenic AAs) 

53

XXXXX

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

  • Hemolytic anemia following oxidizing agent (fava beans, infections

Dx:

  • Bite cells in peripheral smear
  • Heinz bodies: denatured Hb precipitates in RBCs

Epi: most common enzyme deficiency (increased in AAs due to malarial resistance)

G6PD Deficiency

Inheritance: XL Rec

Disorder: G6PD taken out. No NADPH produced. NADPH required to keep glutathione reduced, which removes free radicals. Therefore, dx causes increased oxidative damage.

 

54

G6PD Deficiency

Inheritance: XL Rec

Disorder: G6PD taken out. No NADPH produced. NADPH required to keep glutathione reduced, which removes free radicals. Therefore, dx causes increased oxidative damage.

Sxs: XXXX

Dx: XXXXX

Epi: XXXXX

Sxs:

Hemolytic anemia following oxidizing agent (fava beans, infections

Dx:

Bite cells in peripheral smear

Heinz bodies: denatured Hb precipitates in RBCs

Epi: most common enzyme deficiency (increased in AAs due to malarial resistance)

55

XXXXX

Inheritance: XXXXX

Disorder: XXXXX

 

Sxs:

  • Fructose in blood/urine
  • No real sxs

 

Essential Fructosuria

Inheritance: Auto Rec

Disorder: Defect in Fructokinase

Sxs:

  • Fructose in blood/urine
  • No real sxs

56

XXXXX

Inheritance: Auto Rec

Disorder: Deficiency in aldolase B. Accumulation of Fructose 1P. Decreased phosphate available, so glycogenolysis and gluconeogenesis inhibited.

Sxs:

  • Follow consumption of fructose (fruit, juice, honey)
  • Hypoglycemia
  • jaundice
  • Cirrhosis
  • Vomiting

Trt: fructose and sucrose free diet 

Fructose Intolerance

Inheritance: Auto Rec

Disorder: Deficiency in aldolase B. Accumulation of Fructose 1P. Decreased phosphate available, so glycogenolysis and gluconeogenesis inhibited.

 

57

Fructose Intolerance

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Follow consumption of fructose (fruit, juice, honey)

Hypoglycemia

jaundice

Cirrhosis

Vomiting

Trt: fructose and sucrose free diet 

Inheritance: Auto Rec

Disorder: Deficiency in aldolase B. Accumulation of Fructose 1P. Decreased phosphate available, so glycogenolysis and gluconeogenesis inhibited.

58

Fructose Intolerance

Inheritance: Auto Rec

Disorder: Deficiency in aldolase B. Accumulation of Fructose 1P. Decreased phosphate available, so glycogenolysis and gluconeogenesis inhibited.

Sxs: XXXXX

Trt: XXXXX

After intake of fruit, juice, or honey:

  • Jaundice
  • Cirrhosis
  • Vomiting
  • Hypoglycemia

Trt: remove fructose and sucrose from diet

59

XXXXX

Inheritance: Auto Rec

Disorder: Galactitol accumulates w/ Galactose intake

Sxs:

  • Mild condition
  • Galactosemia/Galactosuria
  • Infantile cataracts
  • Failure to track objects
  • Failure to develop social smile

Galactokinase Deficiency

60

Galactokinase Deficiency

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Mild condition

Galactosemia/Galactosuria

Infantile cataracts

Failure to track objects

Failure to develop social smile

Galactokinase Deficiency

Inheritance: Auto Rec

Disorder: Galactitol accumulates w/ Galactose intake

 

61

Galactokinase Deficiency

Inheritance: Auto Rec

Disorder: Galactitol accumulates w/ Galactose intake

Sxs: XXXXX

Sxs:

Mild condition

Galactosemia/Galactosuria

Infantile cataracts

Failure to track objects

Failure to develop social smile

62

XXXXX

Inheritance: Auto Rec

Disorder: GALT deficiency. Accumulation of toxic substances (Galactitol).

Sxs:

  • Develop when infants start breast feeding.
  • Cataracts
  • FTT
  • Jaundice
  • Hepatomegaly
  • ID
  • E. Coli sepsis  

Trt: exclude galactose and lactose 

Classic Galactosemia

63

Classic Galactosemia

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Develop when infants start breast feeding.

Cataracts

FTT

Jaundice

Hepatomegaly

ID

E. Coli sepsis  

Trt: exclude galactose and lactose 

Inheritance: Auto Rec

Disorder: GALT deficiency. Accumulation of toxic substances (Galactitol).

64

Classic Galactosemia

Inheritance: Auto Rec

Disorder: GALT deficiency. Accumulation of toxic substances (Galactitol).

Sxs XXXXX

Trt: XXXXX

Develop when infants start breast feeding.

Cataracts

FTT

Jaundice

Hepatomegaly

ID

E. Coli sepsis  

Trt: exclude galactose and lactose 

65

XXXXX

Inheritance: XXXXX

Disorder: Insufficient lactase brush border enzyme

Sxs: (with dairy intake)

  • Bloating
  • Cramps
  • Flatulence
  • Osmotic diarrhea (low pH)

Lactose Intolerance/Lactase Deficiency

Inheritance: Hereditary is rare (secondary more common - loss of enzyme due to gastroenteritis, autoimmune dx)

Disorder: Insufficient lactase brush border enzyme

Sxs: (with dairy intake)

  • Bloating
  • Cramps
  • Flatulence
  • Osmotic diarrhea (low pH)

66

XXXXX

Inheritance: XL Rec

Disorder: Defect in the urea cycle. Leads to a buildup of Carbamoyl phosphate, which is converted into orotic acid.

Sxs:

  • Orotic acid in blood
  • Decreased BUN
  • Hyperammonemia (tremor, slurred speech, vomiting, cerebral edema, blurry vision)
  • Megaloblastic anemia

Ornithine Transcarbamylase Deficiency

67

Ornithine Transcarbamylase Deficiency

Inheritance: XXXXX

Disorder: XXXXX

Sxs:

Orotic acid in blood

Decreased BUN

Hyperammonemia (tremor, slurred speech, vomiting, cerebral edema, blurry vision)

Megaloblastic anemia

Inheritance: XL Rec

Disorder: Defect in the urea cycle. Leads to a buildup of Carbamoyl phosphate, which is converted into orotic acid.

68

Ornithine Transcarbamylase Deficiency

Inheritance: XL Rec

Disorder: Defect in the urea cycle. Leads to a buildup of Carbamoyl phosphate, which is converted into orotic acid.

Sxs: XXXXX

Orotic acid in blood

Decreased BUN

Hyperammonemia (tremor, slurred speech, vomiting, cerebral edema, blurry vision)

Megaloblastic anemia

69