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Actually FMS > Week 2 Biochemical genetic disorders > Flashcards

Week 2 Biochemical genetic disorders Flashcards

1
Q

PKU is a disorder of what biochemical classification?

A

Amino acid disorder

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2
Q

What enzyme is defective in PKU?

A

Phenylalanine hydroxylase (PAH)

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3
Q

What is the mechanism of PKU?

A

Phenylalanine cannot be converted into tyrosine, phenylalanine buildup causes neurotoxicity

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4
Q

What is the clinical presentation of PKU?

A

Developmental delay beginning around 3-4 months

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5
Q

What tests are used to diagnose PKU? What would you expect the results to be?

A

Plasma amino acid quantitation, high phenylalanine levels

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6
Q

Methylmalonic aciduria is a disorder of what biochemical classification?

A

Organic acid disorder

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7
Q

What enzyme is defective in methylmalonic aciduria?

A

Methylmalonyl-CoA mutase

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8
Q

What is the mechanism of methylmalonic aciduria?

A

Methylmalonyl-CoA cannot be converted into succinyl-CoA, methylmalonyl-CoA buildup causes severe acidosis

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9
Q

What is the treatment for PKU?

A

Low protein diet

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10
Q

What is the clinical presentation of methylmalonic aciduria?

A

Severe acidosis in the first week of life

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11
Q

What tests are used to diagnose methylmalonic aciduria? What would you expect the results to be?

A

Urine organic acid quantitation, high methylmalonic acid

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12
Q

What is the treatment for methylmalonic aciduria?

A

Low protein diet, some patients respond to vitamin B12 injections (cofactor for affected enzyme)

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13
Q

Ornithine transcarbamylase deficiency (OTC) is a disorder of what biochemical classification?

A

Urea cycle defect

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14
Q

What enzyme is defective in OTC deficiency?

A

Ornithine transcarbamylase synthetase

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15
Q

What is the mechanism of OTC deficiency?

A

Bidirectional conversion between ornithine and citrulline is blocked (urea cycle), leads to ammonia buildup

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16
Q

What is the clinical presentation of OTC deficiency?

A

Severe hyperammonemia in neonate, can cause neurological damage if not treated quickly

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17
Q

What tests are used to diagnose OTC deficiency? What would you expect the results to be?

A

Urine amino acid quantitation, low citrulline

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18
Q

What is the treatment for OTC deficiency?

A

Low protein diet, ammonia scavengers

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19
Q

Hereditary fructose intolerance (HFI) is a disorder of what biochemical classification?

A

Carbohydrate disorder

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20
Q

What enzyme is defective in HFI?

A

Aldolase B (fructose-1-phosphate aldolase)

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21
Q

What is the mechanism of HFI?

A

Fructose cannot be metabolized to glucose, leades to fructose-1-phosphate buildup in the liver, kidneys, and small intestine

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22
Q

What is the clinical presentation of HFI?

A

Vomiting and hypoglycemia after fructose ingestion, chronic hepatomegaly and renal dysfunction

23
Q

What tests are used to diagnose HFI?

A

Clinical suspicion, molecular analysis of aldolase B

24
Q

What is the treatment for HFI?

A

Restrict fructose intake (fruit, vegetables, corn syrup, table sugar)

25
Q

Lesch-Nyhan disease is a disorder of what biochemical classification?

A

Purine reclamation disorder

26
Q

What enzyme is defective in Lesch-Nyhan disease?

A

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)

27
Q

What is the mechanism of Lesch-Nyhan disease?

A

Defective purine reclamation leads to buildup of guanine and hypoxanthine causes buildup of uric acid

28
Q

What is the clinical presentation of Lesch-Nyhan disease?

A

Severe neurological dysfunction, self mutilating behavior, intellectual disability

29
Q

What tests are used to diagnose Lesch-Nyhan disease? What would you expect to see?

A

Clinical suspicion, high uric acid on urine organic acid quantitation, molecular analysis of HGPRT

30
Q

What is the treatment for Lesch-Nyhan disease?

A

Low purine diet, symptom management of neurological manifestations

31
Q

Medium chain acyl-CoA dehydrogenase deficiency (MCAD) is a disorder of what biochemical classification?

A

Fatty acid oxidation disorder

32
Q

What enzyme is defective in MCAD?

A

Medium chain acyl-CoA dehydrogenase

33
Q

What is the mechanism of MCAD?

A

Defective fatty acid oxidation leads to buildup of metabolic intermediates

34
Q

What is the clinical presentation of MCAD?

A

Lethargy and vomiting after fasting, hypoketoic hypoglycemia

35
Q

What tests are used to diagnose MCAD? What would you expect the results to be?

A

Elevated fatty acid oxidation intermediates on urine organic acid quantitation, acylcarnitine analysis

36
Q

What is the treatment for MCAD?

A

Avoidance of fasting, rapid treatment of hypoglycemia

37
Q

Biotinidase deficiency is a disorder of what biochemical classification?

A

Vitamin reclamation disorder

38
Q

What enzyme is defective in biotinidase deficiency?

A

Biotinidase

39
Q

What is the mechanism of biotinidase deficiency?

A

Defective reclamation of biotin leads to biotin deficiency

40
Q

What is the clinical presentation of biotinidase deficiency?

A

Alopecia, dermatitis, deafness, seizures, neurologic deterioration starting at 4-6 months

41
Q

What tests are used to diagnose biotinidase deficiency’

A

Enzyme assay

42
Q

What is the treatment for biotinidase deficiency?

A

Biotin supplementation

43
Q

Tay-Sachs disease is a disorder of what biochemical classification?

A

Lysosomal storage disorder

44
Q

What enzyme is deficient in Tay-Sachs disease?

A

beta-hexoaminidase A

45
Q

What is the mechanism for Tay-Sachs disease?

A

Defective beta-hexoaminidase A leads to lipid accumulation in the brain

46
Q

What is the clinical presentation of Tay-Sachs disease?

A

Neurological degeneration, hypotonia, spasticity, seizures, blindness, death at 2-4 years

47
Q

What is the treatment for Tay-Sachs disease?

A

None; symptom management

48
Q

Hunter syndrome is a disorder of what biochemical classification?

A

Lysosomal storage disorder

49
Q

What enzyme is defective in Hunter syndrome?

A

Iduronate-2-sulfatase

50
Q

What is the mechanism of Hunter syndrome?

A

Defective iduronate-2-sulfatase leads to accumulation of mucopolysaccharides (especially heparin sulfate and dermatan sulfate)

51
Q

What is the clinical presentation of Hunter syndrome?

A

Craniofacial anomalities, neurological degeneration

52
Q

What tests are used to diagnose Hunter syndrome?

A

Enzyme assay

53
Q

What is the treatment for Hunter syndrome?

A

Enzyme replacement therapy

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