| Metadata | |
|---|---|
| ID | DOID:9269 |
| Name | maple syrup urine disease |
| Definition | An organic acidemia that is 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. http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:27718001 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
branched chain ketoaciduria [EXACT] dihydrolipoamide dehydrogenase deficiency [RELATED] Ketoacidaemia [EXACT] |
| Parent Relationships |
is_a organic acidemia |