Which one of the following diseases is an autosomal dominant disorder: (A) Hemochromatosis, (B) Phenylketonuria, (C) Maturity onset diabetes of the young, (D) Glucose-6 phosphate dehydrogenase deficiency
Answer is C. Maturity-onset diabetes of the young (MODY) is a heterogeneous single gene disorder characterized by non-insulin-dependent diabetes, an early onset and autosomal dominant inheritance.Approximately 15-20% of families fitting MODY criteria do not have mutations in any of the known genes Ref Robbins 9/e pg 155