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Pediatric Boards > Metabolic Disorders > Flashcards

Metabolic Disorders Flashcards

1
Q

Most valuable diagnostic tests with metabolic diseases?

A

Serum amino acids and urine organic acids

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2
Q

What is PKU?

A

AR disorder, can’t convert phenylalanine to tyrosine (phenylalanine hydroxylase)

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3
Q

Most common presentation of PKU?

A

Infant with vomiting, irritability, eczematoid rash, and musty odor (also usually fair-haired and fair-skinned); profound intellectual disability if untreated

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4
Q

Symptoms to suggest metabolic?

A

Sudden onset lethargy, vomiting, apnea, irritability, seizures, afebrile

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5
Q

Important features of organic acidemias (4)?

A

1) Elevated ammonia (usually)
2) Anion gap acidosis
3) Drunken appearance
4) Ketonuria

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6
Q

Examples of organic acidemias (4)?

A

1) Methylmalonic acidemia
2) Propionic acidemia
3) Isovaleric acidemia
4) Biotinidase deficiency

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7
Q

Diagnostic test of choice for organic acidemias?

A

Urine organic acids

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8
Q

Key feature and treatment of isovaleric acidemia?

A

Odor of sweaty feet (and seizure); protein restriction

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9
Q

Possible treatment for methylmalonic acidemia?

A

Vitamin B12

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10
Q

Presentation of FA metabolism defects?

A

Metabolic acidosis, hypoglycemia, +/-hepatomegaly, with fasting (can’t metabolize FA for glucose or ketones)

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11
Q

Diagnosis of FA metabolism defects?

A

Plasma acylcarnitine profile

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12
Q

Example of urea cycle defects?

A

Ornithine transcarbamylase deficiency (most common, X-linked)

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13
Q

Presentation of urea cycle defects?

A

Hyperammonemia, NO acidosis or ketonuria, respiratory alkalosis, lethargy, hypotonia, vomiting, poor feeding

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14
Q

Treatment of urea cycle defects?

A

IV glucose, reducing protein, +/-arginine

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15
Q

Diagnosis of urea cycle defects?

A

Urine organic acids

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16
Q

Presentation of galactosemia?

A

After first meal of lactose–poor feeding failure to thrive, abdominal distension, hypoglycemia, GNR sepsis (E.coli), urine reducing substances (non glucose)

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17
Q

Defect and diagnostic test in galactosemia?

A

GALT (galactose-1-phosphate uridyltransferase)–G1P accumulates in kidney, liver, brain; diagnosis by measuring GALT activity in RBCs

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18
Q

Treatment of galactosemia?

A

Galactose-free diet (soy formula)

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19
Q

Long-term complications of galactosemia?

A

Cataracts (reversible with diet change), intellectual disability, liver disease

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20
Q

Presentation of inherited fructose intolerance?

A

Seizures just after a meal, child stays away from sweets; jaundice, hepatomegaly, vomiting, lethargy

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21
Q

Treatment of inherited fructose intolerance?

A

Avoidance of fructose

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22
Q

Hepatomegaly + non-glucose reducing substances in urine =

A

Galactosemia

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23
Q

Presentation of maple syrup urine disease (MSUD)?

A

Hypoglycemia, acidosis, increased tone, seizures, first week of life, maple syrup odor from urine

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24
Q

Diagnosis of MSUD?

A

Increased leucine, isoleucine, and valine in plasma and urine; +alloisoleucine

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25
Q

Drug of choice in refractory hypoglycemia in infants?

A

Diazoxide (not glucagon)

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26
Q

Mnemonic for symptoms of biotinidase deficiency?

A 
BIO:
Bald (alopecia)
Itchy rash
Out cold (coma, ataxia, neurological signs)
(also lactic acidosis)
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27
Q

Treatment of biotinidase deficiency?

A

Biotin supplementations

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28
Q

Most important tests for hypoglycemia in infants?

A

Urine ketones and reducing substances

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29
Q

Examples of amino acid metabolism defects (4)?

A

1) Alcaptonuria
2) Homocystinuria
3) Tyrosinemia
4) PKU

30
Q

Presentation of alcaptonuria?

A

Dark urine or diaper (homogentisic acid in urine); early arthritis and heart disease (as adults)

31
Q

Treatment of alcaptonuria?

A

Diet low in tyrosine and phenylalanine (tyrosine not degraded well)

32
Q

Presentation of homocystinuria?

A

Elevated methionine levels, dislocated lens (posterior), skeletal abnormalities (like Marfan), cognitive deficits, lighter skin/hair/eyes

33
Q

Difference between homocystinuria and Marfan?

A

No cognitive deficits in Marfan

34
Q

Diagnosis of homocystinuria?

A

Confirming homocysteine in the urine

35
Q

Treatment of homocystinuria?

A

Pyridoxine (Vit. B6); may be resistant–use diet high in cystine and low in methionine

36
Q

Presentation of tyrosinemia?

A

Corneal ulcerations, plaques, corneal clouding, skin thickening (all caused by tyrosine accumulation)

37
Q

Treatment of tyrosinemia?

A

Diet low in tyrosine and phenylalanine

38
Q

Risks in PKU and pregnancy if not treated BEFORE conception?

A

Miscarriage, SGA/LBW, microcephaly, CHD, intellectual disability

39
Q

Treatment for PKU?

A

Low phenylalanine formula and diet

40
Q

Risk of over-treatment of PKU?

A

Phenylalanine deficiency (lethargy, rash, +/-diarrhea)

41
Q

Examples of mucopolysaccharidoses or MPS (4)?

A

1) Hurler’s syndrome (MPS Type I)
2) Hunter’s syndrome (MPS Type II)
3) Sanfilippo syndrome (MPS Type III)
4) Morquio syndrome (MPS Type IV)

42
Q

Common feature of MPS?

A

Coarse facies

43
Q

Key points in Hurler’s?

A

Hirsuitism, HSM, corneal clouding, low alpha-L-iduronidase in WBC, AR

44
Q

Key points in Hunter’s?

A

HSM, joint contractures, pebbly skin, low iduronate sulfatase in WBC, NO corneal clouding, X-linked

45
Q

Key points in Sanfilippo?

A

No HSM, +cognitive deficits, AR

46
Q

Key points in Morquio?

A

Normal IQ, skeletal involvement, corneal clouding

47
Q

Presentation of von Gierke disease (GSD Type I)?

A

Hypoglycemia, distended abdomen, hepatomegaly, poor growth, seizures (2/2 hypoglycemia), elevated TG and cholesterol, lactic acidosis (when fasting), hyperuricemia

48
Q

Treatment of von Gierke disease (GSD Type I)?

A

Continuous tube feeds, uncooked cornstarch (releases glucose slowly), allopurinol (hyperuricemia)

49
Q

Presentation of Pompe disease (GSD Type II)?

A

Hypotonia, FTT, hepatomegaly with macroglossia, cardiomegaly; NOT hypoglycemia and acidosis (actually a lysosomal storage defect)

50
Q

Presentation of nonketotic hyperglycinemia?

A

Intractable neonatal seizures, in utero hiccups, acute encephalopathy, no acidosis, no hyperammonemia

51
Q

Inheritance of familial hypercholesterolemia?

A

AD (defect in LDL receptor causing LDL deposition–e.g. tendon xanthomas)

52
Q

Presentation of Farber’s disease?

A

Cherry red spot in macula, skin nodules, arthralgias (“Farmer’s disease”)

53
Q

Presentation of Wolman disease?

A

FTT, hepatosplenomegaly, calcified and enlarged adrenal gland (defect in lipoprotein metabolism–TG and cholesterol deposited in body tissues)

54
Q

Peril with Wolman disease?

A

Plasma TG and cholesterol levels are normal; only deposited in tissues abnormally

55
Q

Inheritance and presentation of Menkes disease?

A

X-linked; premature delivery, temperature instability, hypotnoia, hypoglycemia, seizures, neurological deterioration

56
Q

Lab findings in Menkes disease?

A

Low serum copper and ceruloplasmin (high in intestinal biopsies, but cannot be transported)

57
Q

Enzyme deficiency in Gaucher disease?

A

Lysosomal glucocerebrosidase

58
Q

Presentation of Gaucher disease?

A

Hepatosplenomegaly, bone pain (osteosclerosis and lytic lesions), and easy bruising (thrombocytopenia); also CNS deterioration in infantile form, none in juvenile form

59
Q

Enzyme deficiency and inheritance for Fabry disease?

A

Lysosomal alpha-galactosidase; X-linked (only sphingolipidosis that is X-linked, rest are AR)

60
Q

Presentation of Fabry disease?

A

Agniokeratomas, corneal opacities, vascular disease of kidney, heart, and CNS

61
Q

Treatment of Fabry disease?

A

Enzyme replacement therapy

62
Q

Examples of sphingolipidoses (lysomal problems with breaking down sphingolipids)?

A

1) Gaucher disease
2) Fabry disease
3) Niemann-Pick disease
4) Tay-Sachs disease

63
Q

Treatment of juvenile Gaucher disease?

A

Enzyme replacement therapy

64
Q

Enzyme deficiency in Tay-Sachs disease?

A

Hexosaminidase A

65
Q

Presentation of Tay-Sachs disease?

A

Neurological deterioration late in the first year of life (axial hypotonia, extremity hypertonia, hyperreflexia, exaggerated startle reflex), macular cherry-red spots, seizures, macrocephaly

66
Q

Enzyme deficiency in Niemann-Pick disease?

A

Acid sphinogmyelinase

67
Q

Presentation of Niemann-Pick disease?

A

CNS deterioration (generally 3-5 years of age), macular cherry-red spot, HSM, cataplexy, narcolepsy

68
Q

Difference between Niemann-Pick and Tay-Sachs?

A

Both have cherry red spots, but only Niemann-Pick has HSM

69
Q

What hematologic abnormalities can be seen with organic acidemias?

A

Neutropenia and thrombocytopenia

70
Q

What hematologic abnormality can be seen with von Gierke disease (type 1b)?

A

Neutropenia

71
Q

What lab abnormalities are seen with mitochondrial disorders?

A

Elevated lactate and pyruvate (excess glycolosis)

72
Q

What enzyme deficiency may be responsible for treatment-resistant “PKU”?

A

Tetrahydrobiopterin (BH4)

Pediatric Boards (12 decks)

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