A) Fabrys disease
B) Gauchers disease
C) Lesch- Nyhan disease
D) Hunters disease
Correct Answer: C
Solution :
Lesch-Nyhan syndrome (congenital hyperuricemia) is inherited through sex-linked recessive gene and characterised by excess production of uric acid due to defect in purine metabolism, mental retardation, uric acid, urinary stones etc. The mother contributes the X-chromosome with the defective gene to a male zygote. These are deficient for the enzyme hypoxanthine-guanine phosphoriboxyl transferase. Fabry disease is X-linked recessive disease caused by a-galactosidase a deficiency and characterised by kidney damage, comeal changes, vascular skin growth etc. Gauchers disease is caused by a chronic enzyme deficiency occurring frequently among Ashkenazijews. Hunter syndrome is also an X-linked recessive disease, characterised by mental retardation, coarse features, hirsutism etc.
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