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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
Drug of choice in refractory hypoglycemia in infants?
Diazoxide (not glucagon)
26
Mnemonic for symptoms of biotinidase deficiency?
``` BIO: Bald (alopecia) Itchy rash Out cold (coma, ataxia, neurological signs) (also lactic acidosis) ```
27
Treatment of biotinidase deficiency?
Biotin supplementations
28
Most important tests for hypoglycemia in infants?
Urine ketones and reducing substances
29
Examples of amino acid metabolism defects (4)?
1) Alcaptonuria 2) Homocystinuria 3) Tyrosinemia 4) PKU
30
Presentation of alcaptonuria?
Dark urine or diaper (homogentisic acid in urine); early arthritis and heart disease (as adults)
31
Treatment of alcaptonuria?
Diet low in tyrosine and phenylalanine (tyrosine not degraded well)
32
Presentation of homocystinuria?
Elevated methionine levels, dislocated lens (posterior), skeletal abnormalities (like Marfan), cognitive deficits, lighter skin/hair/eyes
33
Difference between homocystinuria and Marfan?
No cognitive deficits in Marfan
34
Diagnosis of homocystinuria?
Confirming homocysteine in the urine
35
Treatment of homocystinuria?
Pyridoxine (Vit. B6); may be resistant--use diet high in cystine and low in methionine
36
Presentation of tyrosinemia?
Corneal ulcerations, plaques, corneal clouding, skin thickening (all caused by tyrosine accumulation)
37
Treatment of tyrosinemia?
Diet low in tyrosine and phenylalanine
38
Risks in PKU and pregnancy if not treated BEFORE conception?
Miscarriage, SGA/LBW, microcephaly, CHD, intellectual disability
39
Treatment for PKU?
Low phenylalanine formula and diet
40
Risk of over-treatment of PKU?
Phenylalanine deficiency (lethargy, rash, +/-diarrhea)
41
Examples of mucopolysaccharidoses or MPS (4)?
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
Common feature of MPS?
Coarse facies
43
Key points in Hurler's?
Hirsuitism, HSM, corneal clouding, low alpha-L-iduronidase in WBC, AR
44
Key points in Hunter's?
HSM, joint contractures, pebbly skin, low iduronate sulfatase in WBC, NO corneal clouding, X-linked
45
Key points in Sanfilippo?
No HSM, +cognitive deficits, AR
46
Key points in Morquio?
Normal IQ, skeletal involvement, corneal clouding
47
Presentation of von Gierke disease (GSD Type I)?
Hypoglycemia, distended abdomen, hepatomegaly, poor growth, seizures (2/2 hypoglycemia), elevated TG and cholesterol, lactic acidosis (when fasting), hyperuricemia
48
Treatment of von Gierke disease (GSD Type I)?
Continuous tube feeds, uncooked cornstarch (releases glucose slowly), allopurinol (hyperuricemia)
49
Presentation of Pompe disease (GSD Type II)?
Hypotonia, FTT, hepatomegaly with macroglossia, cardiomegaly; NOT hypoglycemia and acidosis (actually a lysosomal storage defect)
50
Presentation of nonketotic hyperglycinemia?
Intractable neonatal seizures, in utero hiccups, acute encephalopathy, no acidosis, no hyperammonemia
51
Inheritance of familial hypercholesterolemia?
AD (defect in LDL receptor causing LDL deposition--e.g. tendon xanthomas)
52
Presentation of Farber's disease?
Cherry red spot in macula, skin nodules, arthralgias ("Farmer's disease")
53
Presentation of Wolman disease?
FTT, hepatosplenomegaly, calcified and enlarged adrenal gland (defect in lipoprotein metabolism--TG and cholesterol deposited in body tissues)
54
Peril with Wolman disease?
Plasma TG and cholesterol levels are normal; only deposited in tissues abnormally
55
Inheritance and presentation of Menkes disease?
X-linked; premature delivery, temperature instability, hypotnoia, hypoglycemia, seizures, neurological deterioration
56
Lab findings in Menkes disease?
Low serum copper and ceruloplasmin (high in intestinal biopsies, but cannot be transported)
57
Enzyme deficiency in Gaucher disease?
Lysosomal glucocerebrosidase
58
Presentation of Gaucher disease?
Hepatosplenomegaly, bone pain (osteosclerosis and lytic lesions), and easy bruising (thrombocytopenia); also CNS deterioration in infantile form, none in juvenile form
59
Enzyme deficiency and inheritance for Fabry disease?
Lysosomal alpha-galactosidase; X-linked (only sphingolipidosis that is X-linked, rest are AR)
60
Presentation of Fabry disease?
Agniokeratomas, corneal opacities, vascular disease of kidney, heart, and CNS
61
Treatment of Fabry disease?
Enzyme replacement therapy
62
Examples of sphingolipidoses (lysomal problems with breaking down sphingolipids)?
1) Gaucher disease 2) Fabry disease 3) Niemann-Pick disease 4) Tay-Sachs disease
63
Treatment of juvenile Gaucher disease?
Enzyme replacement therapy
64
Enzyme deficiency in Tay-Sachs disease?
Hexosaminidase A
65
Presentation of Tay-Sachs disease?
Neurological deterioration late in the first year of life (axial hypotonia, extremity hypertonia, hyperreflexia, exaggerated startle reflex), macular cherry-red spots, seizures, macrocephaly
66
Enzyme deficiency in Niemann-Pick disease?
Acid sphinogmyelinase
67
Presentation of Niemann-Pick disease?
CNS deterioration (generally 3-5 years of age), macular cherry-red spot, HSM, cataplexy, narcolepsy
68
Difference between Niemann-Pick and Tay-Sachs?
Both have cherry red spots, but only Niemann-Pick has HSM
69
What hematologic abnormalities can be seen with organic acidemias?
Neutropenia and thrombocytopenia
70
What hematologic abnormality can be seen with von Gierke disease (type 1b)?
Neutropenia
71
What lab abnormalities are seen with mitochondrial disorders?
Elevated lactate and pyruvate (excess glycolosis)
72
What enzyme deficiency may be responsible for treatment-resistant "PKU"?
Tetrahydrobiopterin (BH4)

Pediatric Boards (12 decks)

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