An inherited deficiency of branched chain a keto acid dehydrogenase result in which condition?
Correct Answer: Maple syrup urine disease
Description: Maple syrup urine disease is caused by a deficiency of branched-chain a-keto acid dehydrogenase. This enzyme is involved in the catabolism of the branched- chain amino acids leucine, isoleucine, and valine. The sweet-smelling intermediates that accumulate in the urine give the disease its name. Neurologic problems are common in patients with this disease. Phenylketonuria is caused by a deficiency of phenylalanine hydroxylase. Homocystinuria is caused by a deficiency of cystathionine synthetase. A deficiency of homogentisate oxidase results in alcaptonuria, and a lack of histidase causes histidinemia.
Category:
Biochemistry
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now