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Biochemical Disorders

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coregope's version from 2017-01-21 05:32

Glycogen Storage Disease

Question Answer
Type IA (Von Gierke Disease)Glucose-6-phosphatase
Type II (Pompe Disease)Alpha 1,4- glucosidase
Type III (Cori Disease)Amylo-1,6 glucosidase
Type IV (Andersen Disease)Amylo 1,4-1,6 transglucosidase
Type V (McArdle Syndrome)Myophosphorylase
Type VI (Hers Disease)Liver phosphorylase
Type VII (Tauri's Disease)Phosphofructokinase
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Carbohydrate Metabolic Disorders

Question Answer
Essential FructosuriaFructokinase
Hereditary Fructose IntoleranceAldolases B
GalactokinaseGalactokinase 1
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Lipid Metabolic Disorders

Question Answer
Tay-Sachs DiseaseHexosaminidase-A
Gaucher DiseaseGlucocerebrosidase
Metachromatic LeukodystrophyArylsulfatase A
Gm1 GangliosidosisBeta-galactosidase
Sandhoff DiseaseHexoaminidase B
Fabry DiseaseAlpha-galactosidase A
Neimman-Pick Diease (A + B)Acid Spingomyelinase Deficiency
Krabbe Disease (Globoid cell Leukodystrophy)Beta-galactosylceramidase
Farber DiseaseN-acylspingosine amidohydrolase 1
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Amino Acid Metabolic Disorders

Question Answer
Celiac DiseaseDefect in mucosal processing
CystinuraDefect in Transport of Proteins
HomocystinuriaCystathionine Beta-synthase
AlkaptonuriaHomogentisic acid oxidase
Maple Syrup Urine DiseaseBranched-Chain Alpha-ketoacid Dehydrogenase
CystathioninuriaCystathionine gamma-lysase
PhenylketonuriaPhenylalanine hydroxylase
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Purine Metabolism Disorder

Question Answer
Lesch-Nyhan Syndromehypoxanthine-guanine phosphoribosyl- transferase
Adenosine Deaminase DeficiencyRibonucleotide Reductase
GoutExcess purine nucleotide
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Protein Energy Malnutrition

Question Answer
KwashiorkorFatty Infiltration in the liver
MarasmusNo fats deposits on liver
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