Which of the following is an autosomal dominant metabolic disorder?: (A) Hereditary hypercholesterolemia, (B) Tay sachs disease, (C) Gaucher's disease, (D) Tyrosinemia
Answer is A. a. Hereditary hypercholesterolemia(Ref: Nelson's 20/e p 595, Ghai 8/e p 640)Vishwa Hindu Parishad is DOMINANT for Autosomal Dominant diseasesV - Von Willebrand disease/Von Hippel Lindau diseaseH - Hypercholesterolemia, Huntington disease, Hereditary spherocytosisP - Pseudo hypoparathyroidismD - Dystrophia myotonicaO - Osteogenesis imperfectaM - Marfans syndromeI - Intermittent porphyriaN - NeurofibromatosisA - Achondroplasia, ADPKDN - Noonan syndromeT - Tuberous sclerosis