Which of the following is an autosomal dominant metabolic disorder?
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
Hereditary hypercholesterolemia
Tay sachs disease
Gaucher's disease
Tyrosinemia
Genetics And Genetic Disorders