disturbance of metabolism of leucine, isoleucine and valine inborn metabolic brain disease maple syrup urine disease SNOMEDCT_2010_1_31:27718001 "Ketoacidaemia" EXACT [SNOMEDCT_2005_07_31:27718001] OMIM2009_05_01:248600 NCI2009_04D:C34806 "branched chain ketoaciduria" EXACT [CSP2005:1849-1063] UMLS_CUI:C0024776 URI: http://www.ebi.ac.uk/cellline#maple_syrup_urine_disease "Maple syrup urine disease is a hereditary aminoaciduria caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures." [URL:http\://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease] "Maple syrup urine disease" EXACT [MTHICD9_2006:270.3] MSH2010_2010_02_22:D008375