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Pediatrics Genetics And Genetic Disorders 42cb9a7f

Which of the following is an autosomal dominant metabolic disorder?

A
Hereditary hypercholesterolemia
B
Tay sachs disease
C
Gaucher's disease
D
Tyrosinemia
High-Yield Explanation
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

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