loading...| Preferred Name |
maple syrup urine disease |
| Synonyms |
dihydrolipoamide dehydrogenase deficiency Ketoacidaemia |
| Definitions |
Xref MGI. OMIM mapping confirmed by DO. [SN]. 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. |
| ID |
http://purl.obolibrary.org/obo/DOID_9269 |
| comment |
Xref MGI. OMIM mapping confirmed by DO. [SN]. |
| database_cross_reference |
OMIM:246900 SNOMEDCT_US_2020_03_01:27718001 OMIM:248600 UMLS_CUI:C0024776 ORDO:511 GARD:3228 OMIM:615135 MESH:D008375 NCI:C34806 ICD10CM:E71.0 |
| has exact synonym |
Ketoacidaemia branched chain ketoaciduria |
| has_related_synonym |
dihydrolipoamide dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency |
| id |
DOID:9269 |
| in_subset | |
| label |
maple syrup urine disease |
| notation |
DOID:9269 |
| prefLabel |
maple syrup urine disease |
| textual 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. |
| 引自 | |
| 有_obo_命名空间 |
disease_ontology |
| subClassOf |