Enzyme Deficiency Flashcards
Gaucher’s deficient enzyme
Glucocerebrosidase
Fabry’s deficient enzyme
a-galactosidase A
Niemann-Pick’s disease deficient enzyme
Sphingomyelinase
Krabbe’s deficient enzyme
Galactocerebrosidase
Tay-Sachs deficient enzyme
Hexosaminidase
Metachromic leukodystrophy deficient enzyme
Arylsulfatase A
Hurler’s deficient enzyme
a-L-iduronidase
Hunter’s deficient enzyme
Iduronate sulfatase
G6PD deficient enzyme
Glucose 6-phosphate dehydrogenase deficiency
Sorbitol to fructose
Sorbitol dehydrogenase
Glucose to sorbitol
Aldose reductase
Chronic granulomatous disease deficient enzyme
NADPH oxidase
Jamaican vomiting disease inactivates
Medium and short chain acyl-CoA dehydrogenase
Leads to hypoglycemia
Unripe fruit of the Akeem tree has hypoglycin
Refsum’s
Accumulation of phytanic acid blocks b-oxidation
Causes improper myelinization
Zellwegger is a cerebrohepatorenal syndrome with a rare inherited absence of
Peroxisomes
X-linked adrenoleukodystrophy has s/sx of apathy behavioral change, visual loss, spasticity, ataxia due to
Peroxisomal activation of VLCFA
Galactokinase deficiency
Galactokinase is lacking but is compensated for by hexokinase thus presents with milder symptoms
Classic galactosemia deficient enzyme
Galactose 1-P uridyltransferase
No alternate enzyme available, more severe symptoms
Accumulation of galactitol leads to cataracts, MR, HSM
Essential fructosuria
Defect in fructokinase
Benign is compensated for by hexokinase
Fructose intolerance
Deficient in aldolase B
Will not appear if purely breastfed
