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Genetics > Inborn Errors of Metabolism > Flashcards

Inborn Errors of Metabolism Flashcards

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Biology 101 flashcards
1
Q

What enzyme is deficient in tyrosinemia type 1? What are the symptoms/signs?

A

Fumarylacetoacetic acid hydrolase; kidney and liver disease

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2
Q

What are organic acids?

A

Intermediates in the catabolism of amino acids, lipids, and other compounds

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3
Q

What is the name of methylmalonic acidemia due to a defect in B12 metabolism?

A

Cobalamin C disorder

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4
Q

What biochemical step is blocked in methylmalonic acidemia? What vitamin is necessary for this step?

A

The conversion of methylmalonyl CoA to succinyl CoA; B12

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5
Q

What is the typical presentation of McArdle’s disease?

A

Only muscle involvement

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6
Q

What gene product is mutated in GSD Ib

A

Glucose-6 phosphate transporter

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7
Q

What is the main symptom associated with glutaric acidemia type 1?

A

Dystonic movements

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8
Q

What is the mode of inheritance for hereditary fructose intolerance

A

Autosomal recessive

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9
Q

What symptoms are associated with classical galactosemia?

A

Vomiting, diarrhea, lethargy, liver disease, jaundice, renal tubular disease, acidosis, cataracts, sepsis

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10
Q

What is the key thing to clinically recognize in organic acidemias?

A

Wide anion gap ketoacidosis

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11
Q

What lab test result would indicate glycine encephalopathy?

A

Increased CSF/plasma glycine ratio

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12
Q

What are the symptoms associated with albinism?

A

Hypopigmentation of skin, hair, and eyes, and reduced visual acuity

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13
Q

What biochemical processes occur in the peroxisomes?

A

Oxidation of very long chain fatty acids, phytanic acid and pristanic acid oxidation, lysine catabolism, bile acid synthesis, plasmalogen synthesis

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14
Q

What are the laboratory presentations associated with organic acidemias?

A

Metabolic acidosis, increased anion gap, ketosis, +/- elevated ammonia level

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15
Q

What organ system is affected by Morquio?

A

Skeletal

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16
Q

How is diagnosis of fatty acid oxidation disorders made?

A

Plasma acylcarnitine profile

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17
Q

What is the key laboratory pattern for fatty acid oxidation disorders?

A

Hypoglycemia with inappropriately low ketones and metabolic acidosis

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18
Q

Which urea cycle disorders are x-linked?

A

Only ornithine transcarbamylase deficiency

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19
Q

What enzyme is deficient in citrullinemia?

A

Arginosuccinic Acid Synthase

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20
Q

What enzymatic deficiency results in classical galactosemia?

A

Galactose-1-phosphate uridyltransferase deficiency

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21
Q

Which biochemical step is blocked in homocystinuria? What enzyme catalyzes this step and what vitamin is required?

A

The conversion of homocysteine to cystathionine is blocked; cystathionine synthase and B6

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22
Q

What is the enzymatic deficiency associated with Hunter syndrome?

A

Iduronate sulfatase

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23
Q

What symptoms are associated with homocystinuria?

A

Marfanoid habitus, tall stature, long fingers, long arm span, pectus deformity, downward dislocated lenses, intellectual disability, risk of thromboses

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24
Q

What is the mode of inheritance for maple syrup urine disease?

A

Autsomal recessive

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25
Q

What enzymatic deficiency is the basis of Von Gierke (GSD Ia)?

A

Glucose-6 phosphate dehydrogenase

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26
Q

What is the mode of inheritance for Hunter syndrome?

A

X-linked

27
Q

How is the anion gap affected in organic acidemias?

A

Wide anion gap

28
Q

What symptoms are associated with glycine encephalopathy?

A

Hypotonia, encephalopathy, seizures, burst surpression EEG

29
Q

What amino acids’ metabolism is affected by Maple Syrup Urine Disease?

A

Valine, Isoleucine, Leucine

30
Q

What symptoms are associated with Smith-Lemli-Opitz Syndrome?

A

Failure to thrive, syndactyly 2nd-3rd toes, polydactyly, cleft palate, pyrolic stenosis, heart defects, ambiguous genitalia, intellectual disabilities

31
Q

What enzyme deficiency is the basis of tyrosinemia type 2?

A

Tyrosine aminotransferase

32
Q

What is the most comon fatty acid oxidation disorder?

A

Medium Chain AcylCoA Dehydrogenase Deficiency

33
Q

What enzymatic deficiency is the basis of phenylketonuria?

A

Phenylalanine hydroxylase

34
Q

What symptoms are associated with hereditary fructose intolerance?

A

Liver/kidney damage, hypoglycemia, vomiting, lethargy, coma

35
Q

What is the treatment for Maple Syrup Urine Disease?

A

Diet with restricted leucine, isoleucine, and valine

36
Q

What condition results from defect in the conversion of glycine to NH3 and CO2?

A

Glycine encephalopathy

37
Q

What abnormal lab findings are associated with D-bifunctional protein deficiency?

A

Elevated very long chain fatty acids, pristanic and phytanic acids, bile acid intermediates

38
Q

What molecules would be evelated in a plasma amino acid screening for homocystinuria?

A

Methionine and homocysteine would be elevated

39
Q

What is the most common urea cycle disorder?

A

Ornithine transcarbamylase deficiency

40
Q

What compounds would be abnormal in a plasma amino acid screen?

A

Arginosuccinic acid and citrulline

41
Q

What symptoms are associated with Niemann-Pick Disease Type A?

A

Developmental regression and neurological problems, cherry macula, hepatosplenomegaly,

42
Q

What are the typical symptoms of GSD I?

A

Hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, puffy cheeks

43
Q

What symptoms are associated with tyrosinemia type 2?

A

Corneal ulcers, skin/CNS involvement

44
Q

What developmental defects can result from maternal PKU?

A

Micrcephaly and congenital heart disease

45
Q

What is the mode of inheritance for Glycine encephalopathy?

A

Autosomal recessive

46
Q

What would be elevated in a plasma amino acid screening in a patient with citrullinemia?

A

Citrulline

47
Q

What is a feature of GSD Ib but not Ia

A

Neutropenia

48
Q

What is the typical presentation of Brancher deficiency (GSD IV)

A

Fatal liver disease

49
Q

What biochemical step is blocked in propionic acidemia? What vitamin is necessary for this step?

A

The conversion of propionyl CoA to methylmalonyl CoA; biotin

50
Q

What abnormal lab findings are associated with Smith-Lemli-Opitz syndrome?

A

Low cholesterol, elevated 7-dehydrocholesterol

51
Q

What are the clinical problems of PKU if left untreated?

A

Brain damage, deficient production of neurotransmitters, hypopigmentation

52
Q

What biochemical step is blocked in glutaric acidemia type 1? What vitamin is required as a cofactor?

A

The conversion of glutaryl CoA to acetyl CoA; riboflavin

53
Q

What is the typical presentation of Sanfilipo Syndrome?

A

Developmental delay, behavioral problems, neurological regression

54
Q

What enzyme is deficienct in Pompe disease (GSD II)?

A

Alpha glucosidase

55
Q

What enzyme is deficient in arginosuccinic aciduria?

A

Arginosuccinic Acid Lyase

56
Q

What lab results are associated with urea cycle disorders?

A

Respiratory alkalosis and hyperammonemia

57
Q

What compounds would be abnormal in the urine of a patient with Hurler syndrome?

A

Dermatan and heparan sulfate

58
Q

What disorders are associated with a cherry red macula?

A

Niemann-Pick A, GM1 gangliosidosis, Tay-Sachs, Sandhoff disease, Farber’s, Sialidosis

59
Q

What is the enzyme deficiency associated with Hurler syndrome?

A

Alpha L-iduronidase

60
Q

What is the anion gap?

A

Measured cations- measured anions

61
Q

What symptoms are associated with Pompe disease?

A

Weakness, hypotonia, cardiomyopathy, abnormal EKG

62
Q

What is the mode of inheritance for classical galactosemia?

A

Autsomal recessive

63
Q

How are specific diagnoses of organic acidemias made?

A

Urine organic acids profile

64
Q

What are organic acidemias?

A

Diseases due to defects in the enzymatic conversion of organic acids into Kreb Cycle components

Genetics (7 decks)

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