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Inborn Errors Of Metabolism Flashcards

0
Q

Mode of inheritance: Adrenoleukodystrophy

A

X linked

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1
Q

Mode of inheritance: OTC deficiency

A

X linked

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2
Q

Mode of inheritance: Hunter Syndrome

A

X linked

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3
Q

Mode of inheritance: Lesch Nyhan

A

X linked

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4
Q

Mode of inheritance: Menkes Disease

A

X linked

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5
Q

Most common disorder of amino acid metabolism

A

PKU

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6
Q

Decreased hair and skin pigmentation

A

PKU

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7
Q

Musty or mousy odor

A

PKU

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8
Q

Elevated methionine

A

Homocystinuria

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9
Q

Tx for Homocystinuria

A

Pyridoxine

Low methionine diet

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10
Q

Accumulation of succinylacetone

A

Tyrosinemia type 1

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11
Q

Hiccups in utero

A

Nonketotic hyperglycinemia

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12
Q

Neonatal seizures and apnea requiring intubation

A

Nonketotic hyperglycinemia

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13
Q

Glycine accumulates in all tissue esp. brain

A

Nonketotic hyperglycinemia

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14
Q

Hyperammonemia, increased glutamine, no ketones

A

Urea cycle defect

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15
Q

Respiratory alkalosis

A

Urea cycle defect

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16
Q

High orotic acid

A

OTC deficiency

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17
Q

Trichorrhexis nodosa

A

Argininosuccinic Aciduria

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18
Q

UOA with elevations of lactic acid and MMA

A

Methylmalonic Aciduria

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19
Q

Metabolic acidosis and elevated anion gap

A

Organic acidemia

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20
Q

Hyperammonemia, ketoacidosis, hypoglycemia

A

Organic acidemias

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21
Q

Tx: low protein diet

A

Organic acidemias and urea cycle defects

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22
Q

Mennonite

A

MSUD

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23
Q

Elevated valine, isoleucine, and leucine

A

MSUD. Alloisoleucine is diagnostic.

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24
Q

Sweaty feet odor

A

Isovaleric acidemia

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25
Q

Causes retinal hemorrhages and subdural hematomas (not shaken baby syndrome)

A

Glutaric acidemia type 1

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26
Q

Pancreatitis, dermatitis, pancytopenia, cardiomyopathy, and ketotic hyperglycinemia

A

Propionic Acidemia

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27
Q

Hyperbilirubinemia

A

Galactosemia

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28
Q

Deficiency in GALT

A

Galactosemia

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29
Q

E. Coli sepsis

A

Galactosemia

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30
Q

Positive urine reducing substances

A

Galactosemia, hereditary fructose intolerance

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31
Q

Tx: galactose and lactose free diet (switch to soy formula)

A

Galactosemia

32
Q

Presents at 6 months with introduction of fruit juices

A

Hereditary fructose intolerance

33
Q

Tx: diet without sucrose, fructose, and sorbitol

A

Hereditary fructose intolerance

34
Q

Hypoketotic hypoycemia, hyperuricemia, hyperammonemia, dicarboxylic aciduria, acidosis

A

Fatty Acid Oxidation defect

35
Q

Fasting induced vomiting, lethargy, seizures, coma. On NBS elevated C8, C8:1 and C10:1 esters

A

Medium Chain Acyl CoA Dehydrogenase Deficiency (MCAD)

36
Q

Most common fatty acid oxidation defect

37
Q

Can’t make glycogen

38
Q

Defect in breaking down glycogen due to glucose 6 phosphatase deficiency

39
Q

Fasting hypoglycemia at 3-4 months of age, hepatomegaly, seizures, doll like facies, protuberant abdomen

A

Glycogen Storage Disease Type 1

40
Q

Hypoglycemia, lactic acidosis, hyperuricemia, hyperlipidemia, elevated liver enzymes, lots of ketones

A

Glycogen Storage Disease

41
Q

Tx for GSD

A

Continuous NG feeds overnight or cornstarch feeds at night

42
Q

AR, muscle cramps in teen with rapid exercise, elevated CK even at rest, myoglobinuria, second wind phenomenon

A

McArdles Disease (GSD 5)

43
Q

Mitochondrial encephalomyopathy with lactic acidosis and stroke like symptoms

44
Q

Myoclonic epilepsy and ragged red fibers

45
Q

Leigh’s Syndrome

A

Mitochondrial disorder

46
Q

May have elevated proline, alanine, pyruvate, lactate

A

Mitochondrial disorder

47
Q

No ketones in urine

A

Fatty acid oxidation defect

48
Q

Glycogen accumulates in lysosomes, cardiomegaly in infantile form

A

Pompe’s (GSD 2, but actually a lysosomal storage disorder)

49
Q

Defect in catabolism of glycosaminoglycans. Accumulation of dermatan sulfate, heparin sulfate, keratan sulfate

50
Q

Coarse facies, bone changes (dysostosis multiplex), joint stiffness, macrocephaly, hernias, corneal clouding, MR

51
Q

Coarse face, large tongue, frequent URI, inguinal and umbilical hernia, OSA, deafness, corneal clouding.

A

MPS 1. Hurler’s. AR

52
Q

No corneal clouding. X linked

A

MPS 2, Hunters

53
Q

Sphingolipidoses

A

Tay Sachs Disease

54
Q

Deficiency of Hexoaminidase A, accumulation of GM2 gangliosides in neurons

A

Tay Sachs Disease

55
Q

Cherry red macule, exaggerated startle

56
Q

Mode of inheritance: Tay Sachs

57
Q

Glucocerebrosidase Deficiency

A

Gaucher Disease

58
Q

HSM, thrombocytopenia, anemia, leukopenia, Erlenmeyer flask deformity

A

Gaucher disease

59
Q

Sphingomyelinase deficiency

A

Niemann Pick

60
Q

Enlarged liver and spleen, FTT, progressive nervous system deterioration

A

Niemann Pick type A

61
Q

Defective transport in cystine out of lysosome, crystallizes in lysosomes causing cell damage

A

Cystinosis

62
Q

FTT with renal Fanconi, kidney failure, light sensitivity

A

Cystinosis

63
Q

Cholesterol biosynthesis disorder

A

Smith Lemil Opitz Syndrome

64
Q

Microcephaly, anteverted nares, ptosis, cleft palate, 2-3 toe syndactyly, hypospadias, MR

A

Smith Lemil Opitz Syndrome

65
Q

Tx for Smith Lemil Opitz

A

Dietary cholesterol and bile acid supplements

66
Q

Deficiency of hypoxanthine guanine phosphoribosyltransferase

A

Lesch Nyhan

67
Q

Elevated uric acid, x linked recessive

A

Lesch Nyhan

68
Q

2-3 year old male with self mutilation, developmental delay, renal stones, gout

A

Lesch Nyhan

69
Q

Purine disorder

A

Lesch Nyhan

70
Q

No copper uptake into liver, deficiency of copper

71
Q

Kinky hair

72
Q

Hypotonia, failure to meet milestones, kinky hair, seizures

73
Q

Mode of inheritance: Menkes

74
Q

Take up too much copper

A

Wilson’s disease

75
Q

Mode of Inheritance: Wilson’s

76
Q

Kayser Fleischer rings, psych disorder, liver dysfxn

A

Wilson’s

77
Q

7 dehydrocholesterol

A

Smith Lemil Opitz

78
Q

Acid Maltase

Pediatrics (20 decks)

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