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Flashcards in Symptoms → Disorder Deck (16):
1

Increased orotic acid in blood and urine
Decreased BUN
Asterixis, speech slurring, somnolence, vomiting, cerebral edema, blurred vision

Ornithin transcarbamyolase deficiency

2

Mental and growth retardation
Seizures
Fair skin
Eczema
Musty body odor

PKU (phe hydroxylase or BH4 deficiency)

3

MR
Osteoporosis
Tall stature
Kyposis
Lens subluxation
Atheroscleorsis (increased thromboembolism)

Homocystinuria (problem with cystathione synthase or homocysteine methyltransferase)

4

Severe CNS defects
MR and death
Sweet smelling urine

Maple syrup urine disease: impaired degradation of branches AAs (Ile, Leu, Val) due to low alpha ketoacid dehydrogenase

5

Severe fasting hypoglycemia
High glycogen levels in the liver
Increase in blood lactate
Hepatomegaly

Von Gierke's (Type II glycogen storage disease)
Deficient glucose-6-phosphatase

6

Cardiomegaly due to glycogen storage disease

Pompe's
Lysosomal alpha 1,4 glucosidase deficiency

7

Painful cramps and myoglobinuria with strenuous exercise

McArdle's disease

8

Hepatosplenomegaly
Aseptic necrosis of the femur
Bone crises
Macrophages that look like crumpled tissue

Gaucher's disease (glucocerebrosidase def)

9

Progressive neurodegeneration
Hepatosplenomegaly
Cherry-red spot on macula
Foam cells

Niemann Pick (sphingomyelinase def)

10

Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells

Krabbe's disease (galactocerebrosidase def)

11

Progressive neuropathy
Developmental delay
Cherry red spot on macula
Lysosomes with onion skin

Tay Sachs (Hexosaminidase def, GM2 accumulation)

12

Central and peripheral demyelination
Ataxia and dementia
Cerebroside sulfate accumulation

Metachromatic leukodystrophy

13

Pancreatitis
Hepatosplenomegaly
Eruptive/pruritic xanthomas (w/o risk for atherosclerosis)

Type I hyperchylomicronemia (LPL or apoCII deficiency)

14

Chorioretinitis
Hydrocephalus
Intracranial calcifications

Congenital toxoplasmosis (classic triad)

15

Micronodular cirrhosis
Diabetes mellitus
Skin pigmentation

Hemochromatosis (classic triad)

16

High fever
Black vomitus
Jaundice
**isolation of ss RNA virus with icosahedral capsid

Yellow fever virus (flavivirus)