maple syrup urine disease
Noun | 1. | maple syrup urine disease - 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 |
单词 | maple syrup urine disease | |||
释义 | maple syrup urine disease
maple syrup urine diseasemaple syrup urine disease[′mā·pəl ¦sir·əp ′yu̇r·ən di‚zēz]maple syrup urine diseasemaple syrup urine diseasema·ple syr·up u·rine dis·ease[MIM*248600]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 acids maple syrup urine diseaseBranched chain ketoaciduria Neonatology A rare AR inborn error of metabolism due to ↓ branched-chain α-keto acid dehydrogenase complex activity, resulting in defective amino acid metabolism, characterized by urine that smells like maple syrup Frequency General population 1:200,000; in Pennsylvania Mennonites of German descent 1:176; the defect in oxidative decarboxylation of branched chain amino acids–BCAA, valine, leucine and isoleucine results in accumulation of BCAA Clinical Neonatal onset, ↓ Moro reflex, dyspnea, spasticity, opisthotonos, mental and growth retardation, severe hypotonia, feeding difficulties, hypoglycemia, convulsions, decorticate rigidity Lab ↑ BCAA, ↓ threonine, serine, alanine in urine and serum, a positive dinitro-phenylhydrazine test for α keto amino acids, which form insoluble hydrazines Treatment Dietary ↓ of BCAA, plus dietary overload–20-fold excess of thiamine Prognosis Mortality was formerly 100%, often due to intercurrent infection; with BCAA-free infant formulas, the survival is virtually 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, Pts may respond to parenteral solutions of BCAA-free amino acidsma·ple syr·up u·rine dis·ease(MSUD) (māpĕl sirŭp yūrin di-zēz)maple syrup urine diseaseA hereditary defect of protein metabolism in which the breakdown of amino acids is defective because of the absence of an oxidase enzyme. The result is the presence of keto-acids with an odour of maple syrup in the urine. The condition causes serious neurological disturbances and death within a few months of birth.maple syrup urine disease
Synonyms for maple syrup urine disease
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