DISEASES WITH THEIR ENZYME DEFICIENCIES

DISEASES WITH THEIR ENZYME DEFICIENCIES

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

Harpers Illustrated Biochemistry (29th Edition) Robert K. Murray (Author), David A. Bender (Author), Kathleen M. Botham (Author)

Harpers Illustrated Biochemistry (29th Edition) Robert K. Murray (Author), David A. Bender (Author), Kathleen M. Botham (Author)

Harpers Illustrated Biochemistry (29th Edition) Robert K. Murray (Author), David A. Bender (Author), Kathleen M. Botham (Author)

Vitamins

Heat Stable and light sensitive	Vitamin K and Riboflavine
Vitamin required for electron Transport (Coenz. Q)	K1, B2
Dopa and Gaba : Metabolism depend on	Pyridoxine
For the Function of Co.A	Pantothenate
Folic acid is	Pteroyl Glutamic acid
Folinic Acid is	Citrovorum factor
Erythrocyte Maturation Factor	B 12
Vitamins Stored in Liver	A, D, K, B 12, Folate
Vitamin Stored in fat	D
Richest Source of Vitamin A	Codliver Oil
Vitamin E	Halibut Liver oil
Prophylactic Dose of Vitamin A	66,000 Micrograms
Main Source of Thiamine in Indian Diet	Cereals
P.E. T and Achalasia are expected to be due to deficiency of	Thiamine
Yellow Crystalline Substance	Riboflavine
Red Crystalline Substance	B 12
White Crystalline Substance	Ascorbic Acid
Vitamins Which are present in animal Foods only	B12, D
Heat Labile Vitamins	Vitamin C and Folic acid
Vitamins That are synthesised in Gut (Flora)	B2, B12 ( Not useful) and Vitamin K
In body (Skin)	Vitamin D
F.I.G.L.U excretion is secreted in deficiency of	B 12
Methylmalonic acid Excretion is increased in deficiency of	B 12
Worm infestation causing B 12 deficiency	Diphyllobothrium Latum
Vitamin which is an antoxidant	Vitamin E
Vitamin useful in the treatment of methemoglobinemia	Vitamin C ( Methylene Blue also useful)
Vitamins with which Hypervitaminosis occurs	A and D
Vitamin deficiency which leads to convulsions	Pyridoxine
Vitamin useful in treatment of Homocystinuria	Pyridoxine
Vitamin useful in treatment of Alcaptonuria	Vitamin C
Vitamin that is used peripheral vascular disease	Vitamin E. ( For intermittent Claudication)
Vitamins that causes Hemolysis	Vitamin K
Vitamin that causes Neonatal Jaundice	Vitamin K
Vitamin that causes sensory polyneuropathy in megavitamin doses	Pyridoxine
Vitamin deficiency that causes pseudo paralysis	Vitamin C, Vitamin D
Vitamin for wound healing	Vitamin C
Magenta red tongue is due to deficiency of	Riboflavine
Raw beef tongue is due to deficiency of	Niacin
Cataract formation and Corneal vascularisation are due to deficiency of	Riboflavine
Vitamin that does not cross placenta	Vitamin D
Vitamin Destroyed by Ultra – Violet Light	B 12
Folic acid deficiency may be caused by	(A) Phenytoin(B) Primidone( C)Phenobarbitone(D) Aminopterin( E) Methotrexate( F) Pyrimethamine( G) CTM (H) Oral Contraceptives

Vitamins

Vitamins

Heat Stable and light sensitive	Vitamin K and Riboflavine
Vitamin required for electron Transport (Coenz. Q)	K1, B2
Dopa and Gaba : Metabolism depend on	Pyridoxine
For the Function of Co.A	Pantothenate
Folic acid is	Pteroyl Glutamic acid
Folinic Acid is	Citrovorum factor
Erythrocyte Maturation Factor	B 12
Vitamins Stored in Liver	A, D, K, B 12, Folate
Vitamin Stored in fat	D
Richest Source of Vitamin A	Codliver Oil
Vitamin E	Halibut Liver oil
Prophylactic Dose of Vitamin A	66,000 Micrograms
Main Source of Thiamine in Indian Diet	Cereals
P.E. T and Achalasia are expected to be due to deficiency of	Thiamine
Yellow Crystalline Substance	Riboflavine
Red Crystalline Substance	B 12
White Crystalline Substance	Ascorbic Acid
Vitamins Which are present in animal Foods only	B12, D
Heat Labile Vitamins	Vitamin C and Folic acid
Vitamins That are synthesised in Gut (Flora)	B2, B12 ( Not useful) and Vitamin K
In body (Skin)	Vitamin D
F.I.G.L.U excretion is secreted in deficiency of	B 12
Methylmalonic acid Excretion is increased in deficiency of	B 12
Worm infestation causing B 12 deficiency	Diphyllobothrium Latum
Vitamin which is an antoxidant	Vitamin E
Vitamin useful in the treatment of methemoglobinemia	Vitamin C ( Methylene Blue also useful)
Vitamins with which Hypervitaminosis occurs	A and D
Vitamin deficiency which leads to convulsions	Pyridoxine
Vitamin useful in treatment of Homocystinuria	Pyridoxine
Vitamin useful in treatment of Alcaptonuria	Vitamin C
Vitamin that is used peripheral vascular disease	Vitamin E. ( For intermittent Claudication)
Vitamins that causes Hemolysis	Vitamin K
Vitamin that causes Neonatal Jaundice	Vitamin K
Vitamin that causes sensory polyneuropathy in megavitamin doses	Pyridoxine
Vitamin deficiency that causes pseudo paralysis	Vitamin C, Vitamin D
Vitamin for wound healing	Vitamin C
Magenta red tongue is due to deficiency of	Riboflavine
Raw beef tongue is due to deficiency of	Niacin
Cataract formation and Corneal vascularisation are due to deficiency of	Riboflavine
Vitamin that does not cross placenta	Vitamin D
Vitamin Destroyed by Ultra – Violet Light	B 12
Folic acid deficiency may be caused by	(A) Phenytoin(B) Primidone( C)Phenobarbitone(D) Aminopterin( E) Methotrexate( F) Pyrimethamine( G) CTM (H) Oral Contraceptives