NEB Exam Q: Enzyme Deficiencies and their Diseases

Remembering enzyme is quite easy but recalling its associated disease sometimes confusing. Therefore we've made a topic covering various diseases occurs due to their respective enzyme deficiency.

Criggler-Najjar - UDP-glucuronyl transferase
Von-Gierke’s - Glucose -6- phosphatase
Pompe’s - Acid maltase( Acid α glucosidase)
Mc Ardle’s - Muscle glycogen phosphorylase
Tarui’s disease - Muscle phosphorylase
Niemann-Pick’s - Sphingomyelinase
Farber’s - Ceramidase
Gaucher’s - β-glucosidase
Krabbe’s - β-galactosidase
Tay-Sach’s - Hexosaminidase-A
Phenylketonuria - Phenylalanine hydroxylase
Alkaptonuria - Homogentisate oxidase
Albinism - Tyrosinase
Fabry’s - α-galactosidase
Lesch-Nyhan syndrome - HGPRT
Sandhoff - Hexosaminidase-β
Xeroderma pigmentosum - DNA exinuclease
Sudden infant death syndrome - Medium chain acyl CoA dehydrogenase
Maple syrup urine - Branched chain α-ketoacid dehydrogenase
Acute Intermittent Porphyria- Uroporphyrinogen-1 synthase
Maple syrup urine disease - Alpha ketoacid decarboxylase
Hereditary fructose intolerance Aldolase b
Fructosuria - Fructokinase b
Galctosemia - Galactose-1-phosphate uridyl transferase