| 释义 |
branched chain ketoaciduria
Thesaurus| Noun | 1. | branched chain ketoaciduria - 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 childhoodmaple syrup urine diseasecongenital disease, genetic abnormality, genetic defect, genetic disease, genetic disorder, hereditary condition, hereditary disease, inherited disease, inherited disorder - a disease or disorder that is inherited geneticallyacetonuria, ketoaciduria, ketonuria - excessive amounts of ketone bodies in the urine as in diabetes mellitus or starvation |
EncyclopediaSeemaple syrup urine diseasebranched chain ketoaciduria
ma·ple syr·up u·rine dis·ease [MIM*248600] an inborn error of metabolism caused by defective oxidative decarboxylation of α-keto acids of leucine, isoleucine, and valine; these branched-chain amino acids are present in the blood and urine in high concentrations; manifestations of disease include feeding difficulties, physical and mental retardation, and a urine odor similar to that of maple syrup; neonatal death is common. Autosomal recessive inheritance, caused by mutation in the E1, E2 or E3 subunit of the branched-chain α-keto acid dehydrogenase gene (BCKDH) on 19q. There are various forms differentiated by the subunit of BCKDH mutated. Synonym(s): branched chain ketoaciduria, branched chain ketonuria, ketoacidemiaA rare autosomal recessive [MIM 248600] inborn error of metabolism due to decreased branched-chain -keto acid dehydrogenase complex activity, resulting in defective amino acid metabolism, characterised by urine that smells like maple syrup
Frequency General population 1:200,000; in Pennsylvania Mennonites of German descent 1:176
Pathogenesis The defect in oxidative decarboxylation of branched chain amino acids—BCAA—valine, leucine and isoleucine results in accumulation of BCAA
Lab Increased BCAA, decreased threonine, serine, alanine in urine and serum, positive dinitro-phenylhydrazine test for alpha-keto amino acids, which form insoluble hydrazines
Management Dietary decrease of BCAA, plus dietary overload—20-fold excess of thiamine
Prognosis Mortality was 100%, often due to intercurrent infection; with BCAA-free infant formulas, the survival is ±100% and mental retardation completely preventable; since acute decompensation by BCAA and BCKA is due to a breakdown of endogenous proteins resulting in metabolic acidosis, ketosis, anorexia, emesis and potentially fatal encephalopathy, patients may respond to parenteral solutions of BCAA-free amino acidsbranched chain ketoaciduria
Synonyms for branched chain ketoacidurianoun an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrupSynonyms- maple syrup urine disease
Related Words- congenital disease
- genetic abnormality
- genetic defect
- genetic disease
- genetic disorder
- hereditary condition
- hereditary disease
- inherited disease
- inherited disorder
- acetonuria
- ketoaciduria
- ketonuria
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