Definition of Maple syrup urine disease
1. Noun. An inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood.
Generic synonyms: Congenital Disease, Genetic Abnormality, Genetic Defect, Genetic Disease, Genetic Disorder, Hereditary Condition, Hereditary Disease, Inherited Disease, Inherited Disorder, Acetonuria, Ketoaciduria, Ketonuria
Medical Definition of Maple syrup urine disease
1. Hereditary disease due to deficiency of an enzyme involved in amino acid metabolism, characterised by urine that smells like maple syrup. (12 Dec 1998)
Lexicographical Neighbors of Maple Syrup Urine Disease
Literary usage of Maple syrup urine disease
Below you will find example usage of this term as found in modern and/or classical literature:
1. Science by American Association for the Advancement of Science (1883)
"... of deficiency of the following enzymes: phenylalanine hydroxylase (phenyl- ketonuria), branched amino acid decarboxylase (maple syrup urine disease), ..."
2. Cord Blood: Establishing a National Hematopoietic Stem Cell Bank Program by Emily Ann Meyer, Kristine M. Gebbie, Kathi E. Hanna (2005)
"... maple syrup urine disease, PKU, MCAD, biotinidase deficiency HIV NAT antibody screen HIV type 1 NAT CMV total Ab, HIV NAT HIV type 1 and type 2 NAT ..."