Which of the following is an autosomal dominant metabolic disorder: (A) Cystic fibrosis, (B) Phenylketonuria, (C) Alpha 1antitrypsin deficiency, (D) Familial hypercholesterolemia
Answer is D. Most of the metabolic disorder have autosomal recessive inheritance expect Her-Her's disease Left-Lesch My hand syndrome Eye-ouclar albinism Has-hunter syndrome Five -fabrys disease Pimples -porphyria Refer robins 7th/152,9/e p141