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Inborn Errors of Metabolism 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
What enzymatic deficiency is the basis of Von Gierke (GSD Ia)?
Glucose-6 phosphate dehydrogenase
26
What is the mode of inheritance for Hunter syndrome?
X-linked
27
How is the anion gap affected in organic acidemias?
Wide anion gap
28
What symptoms are associated with glycine encephalopathy?
Hypotonia, encephalopathy, seizures, burst surpression EEG
29
What amino acids' metabolism is affected by Maple Syrup Urine Disease?
Valine, Isoleucine, Leucine
30
What symptoms are associated with Smith-Lemli-Opitz Syndrome?
Failure to thrive, syndactyly 2nd-3rd toes, polydactyly, cleft palate, pyrolic stenosis, heart defects, ambiguous genitalia, intellectual disabilities
31
What enzyme deficiency is the basis of tyrosinemia type 2?
Tyrosine aminotransferase
32
What is the most comon fatty acid oxidation disorder?
Medium Chain AcylCoA Dehydrogenase Deficiency
33
What enzymatic deficiency is the basis of phenylketonuria?
Phenylalanine hydroxylase
34
What symptoms are associated with hereditary fructose intolerance?
Liver/kidney damage, hypoglycemia, vomiting, lethargy, coma
35
What is the treatment for Maple Syrup Urine Disease?
Diet with restricted leucine, isoleucine, and valine
36
What condition results from defect in the conversion of glycine to NH3 and CO2?
Glycine encephalopathy
37
What abnormal lab findings are associated with D-bifunctional protein deficiency?
Elevated very long chain fatty acids, pristanic and phytanic acids, bile acid intermediates
38
What molecules would be evelated in a plasma amino acid screening for homocystinuria?
Methionine and homocysteine would be elevated
39
What is the most common urea cycle disorder?
Ornithine transcarbamylase deficiency
40
What compounds would be abnormal in a plasma amino acid screen?
Arginosuccinic acid and citrulline
41
What symptoms are associated with Niemann-Pick Disease Type A?
Developmental regression and neurological problems, cherry macula, hepatosplenomegaly,
42
What are the typical symptoms of GSD I?
Hepatomegaly, lactic acidosis, hyperuricemia, hyperlipidemia, puffy cheeks
43
What symptoms are associated with tyrosinemia type 2?
Corneal ulcers, skin/CNS involvement
44
What developmental defects can result from maternal PKU?
Micrcephaly and congenital heart disease
45
What is the mode of inheritance for Glycine encephalopathy?
Autosomal recessive
46
What would be elevated in a plasma amino acid screening in a patient with citrullinemia?
Citrulline
47
What is a feature of GSD Ib but not Ia
Neutropenia
48
What is the typical presentation of Brancher deficiency (GSD IV)
Fatal liver disease
49
What biochemical step is blocked in propionic acidemia? What vitamin is necessary for this step?
The conversion of propionyl CoA to methylmalonyl CoA; biotin
50
What abnormal lab findings are associated with Smith-Lemli-Opitz syndrome?
Low cholesterol, elevated 7-dehydrocholesterol
51
What are the clinical problems of PKU if left untreated?
Brain damage, deficient production of neurotransmitters, hypopigmentation
52
What biochemical step is blocked in glutaric acidemia type 1? What vitamin is required as a cofactor?
The conversion of glutaryl CoA to acetyl CoA; riboflavin
53
What is the typical presentation of Sanfilipo Syndrome?
Developmental delay, behavioral problems, neurological regression
54
What enzyme is deficienct in Pompe disease (GSD II)?
Alpha glucosidase
55
What enzyme is deficient in arginosuccinic aciduria?
Arginosuccinic Acid Lyase
56
What lab results are associated with urea cycle disorders?
Respiratory alkalosis and hyperammonemia
57
What compounds would be abnormal in the urine of a patient with Hurler syndrome?
Dermatan and heparan sulfate
58
What disorders are associated with a cherry red macula?
Niemann-Pick A, GM1 gangliosidosis, Tay-Sachs, Sandhoff disease, Farber's, Sialidosis
59
What is the enzyme deficiency associated with Hurler syndrome?
Alpha L-iduronidase
60
What is the anion gap?
Measured cations- measured anions
61
What symptoms are associated with Pompe disease?
Weakness, hypotonia, cardiomyopathy, abnormal EKG
62
What is the mode of inheritance for classical galactosemia?
Autsomal recessive
63
How are specific diagnoses of organic acidemias made?
Urine organic acids profile
64
What are organic acidemias?
Diseases due to defects in the enzymatic conversion of organic acids into Kreb Cycle components

Genetics (7 decks)

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