Menkes' syndrome I
Branched chain alpha-keto acid dehydrogenase (BCKD) deficiency, branched chain ketoaciduria, keto acid decarboxylase deficiency, leucinosis maple syrup urine syndrome, maple syrup urine disease.
An extremely rare inherited amino acid metabolic disorder characterized by a distinctive sweet odor of the urine and sweat. It is caused by deficient activity in the oxidative decarboxylation pathway of leucine, isoleucine, valine, and the corresponding keto acids in body fluids. Life-threatening complications that may occur in apparently normal infants are severe hypotonia, lethargy, feeding difficulty, and hypoglycemia. If left untreated, the disease may progress to coma. Most untreated infants die within a year. Inheritance is autosomal recessive.
- J. H. Menkes, P. L. Hurst and J. M. Craig:
A New syndrome: progressive familial infantile cerebral dysfunction associated with an unusual urinary substance.
Pediatrics, Evanston, Illinois, 1954, 14: 462-466.
- Stanley Jablonski:
Jablonski’s Dictionary of Syndromes & Eponymic diseases.
Krieger Publishing Company, Malabar, Florida, 1991.