3. Enzymes

3.3. Diseases caused by enzyme deficiencies

Enzymes : Kirchoff first discovered enzyme in 1815. The term enzyme coined by Kuhne (1878). Enzyme may be defined as complex organic catalysts produced by the living cells for carrying out various reactions. Their action is highly specific i.e., a particular enzyme brings about a particular reaction only. Enzymes are proteins. Most active enzymes are associated with some non-protein component required for their activity. These are metal ions or smaller organic molecules called co-enzymes. The metal ions involved are Zn, Mg, Mn, Fe, Cu, K and Na.

 
Table : Diseases caused by enzyme deficiencies

Defective Enzyme

Disease

á-galactosidase

Fabry disease

tyrosinase

Albinism

beta-hexosaminidase A

Tay-Sachs disease

branched-chain ketoacid dehydrogenase complex

Maple Syrup Urine disease

cerebrosidase

Gaucher disease Types I and II

galactose-1-phosphate uridyl transferase

Galactosemia

phenylalanine hydroxylase

Phenylketonuria (PKU)

 Source : Science and Technology, Dr BRAOU, HYD