Symptoms → Disorder Flashcards
Increased orotic acid in blood and urine
Decreased BUN
Asterixis, speech slurring, somnolence, vomiting, cerebral edema, blurred vision
Ornithin transcarbamyolase deficiency
Mental and growth retardation Seizures Fair skin Eczema Musty body odor
PKU (phe hydroxylase or BH4 deficiency)
MR Osteoporosis Tall stature Kyposis Lens subluxation Atheroscleorsis (increased thromboembolism)
Homocystinuria (problem with cystathione synthase or homocysteine methyltransferase)
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
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
Cardiomegaly due to glycogen storage disease
Pompe’s
Lysosomal alpha 1,4 glucosidase deficiency
Painful cramps and myoglobinuria with strenuous exercise
McArdle’s disease
Hepatosplenomegaly
Aseptic necrosis of the femur
Bone crises
Macrophages that look like crumpled tissue
Gaucher’s disease (glucocerebrosidase def)
Progressive neurodegeneration
Hepatosplenomegaly
Cherry-red spot on macula
Foam cells
Niemann Pick (sphingomyelinase def)
Peripheral neuropathy
Developmental delay
Optic atrophy
Globoid cells
Krabbe’s disease (galactocerebrosidase def)
Progressive neuropathy
Developmental delay
Cherry red spot on macula
Lysosomes with onion skin
Tay Sachs (Hexosaminidase def, GM2 accumulation)
Central and peripheral demyelination
Ataxia and dementia
Cerebroside sulfate accumulation
Metachromatic leukodystrophy
Pancreatitis
Hepatosplenomegaly
Eruptive/pruritic xanthomas (w/o risk for atherosclerosis)
Type I hyperchylomicronemia (LPL or apoCII deficiency)
Chorioretinitis
Hydrocephalus
Intracranial calcifications
Congenital toxoplasmosis (classic triad)
Micronodular cirrhosis
Diabetes mellitus
Skin pigmentation
Hemochromatosis (classic triad)
