Which of the following is an autosomal dominant metabolic disorder -: (A) Cystic fibrosis, (B) Phenylketonuria, (C) Alpha-I anti-trypsin deficiency, (D) Familial hypercholesterolemia
Answer is D. Mutations involving single genes follow one of three patterns of inheritance: autosomal dominant, autosomal recessive, or X-linked. Autosomal Dominant Inheritance Familial hypercholesterolemia Huntington disease Marfan syndrome Ehlers-Danlos syndrome Hereditary spherocytosis Neurofibromatosis, type 1 Adult polycystic kidney disease Autosomal Recessive Inheritance Cystic fibrosis Phenylketonuria Tay-Sachs disease Severe combined immunodeficiency a- and b-Thalassemias Sickle cell anemia Mucopolysaccharidoses--all types Glycogen storage diseases--all types Galactosemia X-linked Recessive Inheritance Hemophilia A Duchenne/Becker muscular dystrophy Fragile X syndrome (Robbins Basic Pathology,9th edition,pg no. 219)