Hormones, Vitamins and Enzymes role in health
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