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15 Cards in this Set
- Front
- Back
- 3rd side (hint)
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Hyperammonemia |
Acquired (eg liver disease) or hereditary (eg urea cycle enzyme deficiencies). Excess NH4+ which depletes alpha-ketoglutarate, leading to inhibition of TCA cycle Tremor, slurred speech, somnolence, vomiting, cerebral edema, blurry vision Treatment: limit protein in diet, benzoate or phenylbutarate to decrease ammonia levels, lactulose to acidify GI tract and trap ammonium for excretion |
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Ornithine transcarbamoylase deficiency |
Most common urea cycle disorder. X linked recessive. Decreased elimination of ammonia. Early or late presentation. Increased orotic acid in blood and urine, decreased BUN, symptoms of hyperammonemia |
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PKU |
Autosomal recessive. Decreased phenylalanine hydroxylase or tetrahydrobiopterin cofactor. Tyrosine becomes essential. Increased phenylalanine causes excess phenylketones in urine Mental retardation, growth retardation, seizures, fair skin, eczema, musty body odor Treatment: decrease phenylalanine and increase tyrosine in diet |
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Homocystinuria |
Autosomal recessive. Cystathionine synthase deficiency most common form. Excess homocysteine. Cysteine becomes essential Increased homocysteine in urine, mental retardation, osteoporosis, tall stature, atherosclerosis (homocysteine is prothrombotic) Treatment: increase B12 and B6 in diet |
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Maple syrup urine disease |
Autosomal recessive. Blocked degradation of branched amino acids (Ile, Leu, Val) due to decreased alpha-ketoacid dehydrogenase (B1) Severe CNS defects, mental retardation, death. Urine smells like maple syrup |
I Love Vermont maple syrup from trees with branches |
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Von Gierke's disease |
Glycogen storage disease I Autosamal recessive Deficient glucose-6-phosphatase Severe fasting hypoglycemia, increased glycogen in liver, increased blood lactate, hepatomegaly |
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Pompe's disease |
Glycogen storage disease II Deficient lysosomal alpha-1,4-glucosidase Cardiomegally and systemic findings leading to early death |
Pompe's trashes the pumps (heart, muscle, liver) |
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Cori's disease |
Glycogen storage disease III deficient debranching enzyme alpha-1,6-glucosidase Milder form of type I disease. Gluconeogenesis intact |
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McArdle's disease |
Glycogen storage disease IV Deficient skeletal muscle glycogen phosphorylase Increased glycogen in muscle but cannot break it down, painful muscle cramps, myoglobinuria with exercise |
McArdle's = muscle |
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Fabry's disease |
Lysosomal storage disease deficient alpha-galactosidase with accumulation of ceramide trihexoside, XR peripheral neuropathy, angiokeratomas, cardiovascular/renal disease |
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Gaucher's disease |
Lysosomal storage disease. Most common Deficient glucocerebrosidase with glucocerebroside accumulation. AR Hepatosplenomegaly, aseptic necrosis of femur, bone crises, Gaucher's cells (macrophages that look like crumpled tissue paper) |
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Niemann-Pick disease |
Lysosomal storage disease Deficient sphyngomyelinase with sphyngomyelin accumulation. AR Progressive neurodegeneration, hepatosplenomegaly, cherry-red spot on macula, foam cells |
No mann picks his nose with his sphinger |
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Tay-Sachs disease |
Lysosomal storage disease Deficient hexosaminidase A with GM2 ganglioside accumulation. AR Progressive neurodegeneration, developmental delay, cherry red spot on macula, lysosomes with onion skin, no hepatosplenomegaly |
Tay-saX lacks heXosaminidase |
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Hurler's syndrome |
Lysosomal storage disease Deficient alpha-L-iduronidase with heparan sulfate and dermatan sulfate accumulation. AR Developmental delay, gargoylism, airway obstruction, corneal clouding, hepatosplenomegaly |
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Hunter's syndrome |
Lysosomal storage disease Deficient iduronate sulfatase with heparan and dermatan sulfate accumulation. XR Mild Hurler's + aggressive behavior, no corneal clouding |
Hunters see clearly and aim for X |
