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14 Cards in this Set
- Front
- Back
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Zellweger's syndrome
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-Results from defective peroxisomal biogenesis
-Elevation of C26:0 and C26:1 fatty acid levels in plasma -Generalized nervous system disorder |
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Refsum's disease
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-Deficiency in phytanoyl CoA hydrolase which carries out alpha-oxidation of phytanic acid
-Symptoms: retinitis pigmentosa, cerebellar ataxia, chronic polyneuropathy, deafness, loss of olfaction -Phytanic acid is obtained solely from the diet. So reduction in its intake can cause marked improvement |
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MCAD deficiency
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-Medium chain acyl CoA dehydrogenase deficiency
-Long-chain fatty acids are metabolized by beta-oxidation to a medium chain length acyl CoA -Further oxidation impaired, so medium-chain acyl group is transferred back to carnitine -Acylcarnitines are water soluble and accumuulate in blood and urine -High MCL-FA in serum -Sudden death during infancy may occur -Treatment is carbohydrate and glucose-rich diet |
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Primary carnitine deficiency
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-Carnitine not transported into cells
-Low plasma carnitine and acylcarnitine levels -High carnitine in urine |
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Carnitine palmitoyl transferase IA deficiency
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-Liver only
-Elevated free carnitine plasma levels -Elevated free carnitine/acyl carnitine (C16-C18) ratio |
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Carnitine-acylcarnitine translocase deficiency
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-Low plasma free carnitine ratio
-Elevated acyl carnitine (C16-18) levels |
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Carnitine palmitoyl transferase II deficiency
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Low plasma free carnitine levels
Elevated acyl carnitine levels |
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Carnitine palmitoyltransferase II deficiency
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-CPTII is the enzyme that transfers the acyl group from the acylcarnitine ester to CoA again, releasing free carnitine
-Acute myoglobinuria exacerbated by prolonged exercise and fasting, hypoglycemia, and diminished ketosis. -Lipid deposits in skeletal muscle. Elevated CPK and long-chain acylcarnitines in serum. -In infants: causes severe hypoglycemia and hypoketosis, hepatomegaly, and cardiomyopathy. |
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Hereditary fructose intolerance (fructose poisoning)
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-Aldolase deficiency
-Autosomal recessive disorder -Low ATP, intracellular trapping of fructose-1-p -Severe hypoglycemia, vomiting, jaundice, lacticacidemia, hyperuricemia. -May cause liver failure and death -Treated by rapid detection and removal of fructose and sucrose from the diet |
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Classic galactosemia
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-Uridyltransferase deficiency
-Autosomal recessive disorder -Vomiting, diarrhea, jaundice -Liver damage, cataracts, mental retardation -Treated by rapid diagnosis and removal of galactose and lactose from the diet -Buildup of galactose-1-phosphate because it cannot be converted to UDP-galactose |
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Galactokinase deficiency
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-Lack of galactokinase
-Galactokinase converts galactose into galactose-1-phosphate -Causes elevation of galactose in blood and urine -Causes galactitol accumulation if galactose is present in the diet |
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Farber disease
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-Ceraminidase deficiency
-Ceramide cannot be converted into sphingosine -Painful, progressive joint deformity -Subcutaneous nodules of lipid-laden cells -Hoarse cry -Tissues show granulomas |
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Krabbe disease (globoid cell leukodystrophy)
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-beta-galactosidase deficiency
-Accumulation of galactocerebrosides -Mental and motor retardation -Blindness and deafness -Near-total loss of myelin -Globoid bodies (glycolipid-laden macrophages) in white matter of brain |
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Sanfilippo syndrome (MPS III)
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-Results in severe nervous system disorders, mental retardation
-4 steps are necessary for removing NAG residues from heparan sulfate -Deficiency in any of these enzymes leads to disorder: heparan sulfamidase, N-acetylglucosaminidase, glucosamine-N-acetyltransferase, N-acetylglucosamine-6-sulfatase |
