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30 Cards in this Set
- Front
- Back
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Wernicke-Korsakoff Syndrome |
-Mutation in the transketolase gene - Decreased affinity to TPP |
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Farber disease (disseminated lipogranulomatosis) |
- Enzyme deficiency resulting in accumulation of PAS-positive lipid consisting of ceramide, leading to cell damge with inflammatory response |
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Phenylketonuria |
- Phenylalanine hydroxylase defect |
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Maple syrup urine disease |
- Branched alfa-ketoacid dehydrogenase complex - Defective metabolism of branched chain amino acids (Leu, Ile, Val), accumulation of keto acid |
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Tyrosinemia I |
Fumaryl-acetoacetate hydrolase deficiency |
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Tyrsinemia II |
Tyrosine aminotransferase deficiency |
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Citrullinemia type I |
Argininosuccinate synthetase deficiency |
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Homocystinuria |
Cystathionine B sythase deficiency |
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Methylmalonic acidemia |
Glycin and methylmalonic acid accumulates. Can depend on cofactor B12 - Methylmalonyl-CoA mutase inhibited |
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Propionic acidemia (propionemia) |
Lycine, propionate and "strange" ketonbodies accumulates. - Propionyl-CoA carboxylase inhibited |
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Galactosemia |
Gal-1-P uridyl transferase or galactokinase or UDP-galactose-4-epimerase deficiency - Gal-1-P accumulating in liver will give liver chirrhosis |
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Fructosuria |
Deficiency of hepatic fructokinase enzyme |
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Fructose intolerance (Frucosaemia) |
Fructose-1-P aldolase enzyme deficiency -> inhibition of glycolysis, glycogenolysis, and gluconeogenesis. |
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von Gierke's disease |
Glucose-6-phosphatase deficiency -> hepatomegaly becasue of glycogen accumulation |
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Pompe's disease |
a-1,4-glucosidase enzyme, lysosomal glycogen storage diseases |
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Cori's disease |
Amylo-1,6-glucosidase (debranching enzyme) -> glycogen accumulation in the liver, heart and skeletal muscle |
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McArdle's disease |
Glycogen phosphorlyase deficiency in the muscle |
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Glucose-6-phosphate dehydrogenase deficiency |
X-linked dominant oxidative stress->hemolysis-> anaemia Protection against malaria G6PD / NADPH pathway is the only source fro reduced glutathione in RBS, which protects against oxidative stress. In case of deficiency, denatured, precipitated haemoglobin aggregates to form Heinz bodies |
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Alkaptonuria |
homogentisate 1,2-dioxygenase enzyme deficiency |
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GM1 gangliosidoses |
B-galactosidase deficiency -> abnormal storage of acidic lipid materials in PNS and CNS, particularly in nerve cells |
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Tay-Sachs disease |
Hexosaminidase A deficiency - Nomally a hyrdolytic enzyme found in lysosomes, which breaks down phospholipids. - Hyrdolysis of GM2-ganglioside requires 3 enzymes, two of which are hexosaminidase A subunits, the third is an activator. -GM2-ganglioside accumulates in neurons |
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Sandhoff disease |
B-hexosaminidase B deficincy -> progressive destruction of CNS |
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Gaucher's disease |
Glucocerebrosidase enzyme deficiency. -> glucocerebroside accumulates, Gaucher cells appears |
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Niemann-Pick disease |
Sphyngomyeline phosphodiesterase deficiency (sphyngomyelinase -> accumulation of sphyngomyeline in spleen, liver, lungs, bone marow and brain |
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Hyperglycinemia |
Defect of glycine cleavage enzyme: |
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Tyrosinemia III |
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Lesch-Nyhan syndrome |
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Congenital hyperammonia type I |
Carbamoyl phosphate synthetase |
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Congenital hyperammonia type II |
Ornithine transcarbamoylase |
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Albinism |
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