Definition of Branched chain ketoaciduria
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.
Exact synonyms: Maple Syrup Urine Disease
Generic synonyms: Congenital Disease, Genetic Abnormality, Genetic Defect, Genetic Disease, Genetic Disorder, Hereditary Condition, Hereditary Disease, Inherited Disease, Inherited Disorder, Acetonuria, Ketoaciduria, Ketonuria
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 Branched chain ketoaciduria
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)
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Lexicographical Neighbors of Branched Chain Ketoaciduria
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