loading...| Preferred Name |
maple syrup urine disease |
| Synonyms |
branched-chain ketoaciduria Ketoacidaemia MSUD maple syrup urine disease, type 2 branched chain ketoaciduria BCKD deficiency maple syrup urine disease, type IA BCKDH deficiency maple syrup urine disease, intermittent maple syrup urine disease, classic branched-chain Alpha-Keto acid dehydrogenase deficiency maple syrup urine disease, type IB Keto acid decarboxylase deficiency branched-chain 2-ketoacid dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive maple syrup urine disease, type 1A maple syrup urine disease, Intermediate maple syrup urine disease maple syrup urine disease, type 1B maple syrup urine disease, type II |
| Definitions |
Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. |
| ID |
http://purl.obolibrary.org/obo/MONDO_0009563 |
| comment |
Editor note: genetic subtypes rolled into one OMIM entry. GARD treats as distinct |
| closeMatch | |
| database_cross_reference |
UMLS:C0024776 SCTID:27718001 GARD:0003228 OMIM:248600 DOID:9269 Orphanet:511 MedDRA:10026817 MESH:D008375 ICD10CM:E71.0 OMIMPS:248600 NCIT:C34806 |
| definition |
An autosomal recessive inherited disorder caused by mutations in the BCKDHA, BCKDHB, DBT, and DLD genes. It is characterized by a deficiency of branched-chain alpha-keto acid dehydrogenase complex, leading to accumulation of metabolites in the body fluids. The name of the disease derives from the sweet odor of the urine in infants, reminiscent of maple syrup. Signs and symptoms usually appear in infancy and include lethargy and developmental delays. If untreated, it may lead to seizures, coma, and death. |
| exactMatch |
http://purl.obolibrary.org/obo/NCIT_C34806 http://linkedlifedata.com/resource/umls/id/C0024776 https://omim.org/phenotypicSeries/PS248600 http://purl.obolibrary.org/obo/Orphanet_511 http://identifiers.org/mesh/D008375 http://purl.obolibrary.org/obo/DOID_9269 |
| has_exact_synonym |
branched-chain ketoaciduria Ketoacidaemia MSUD branched chain ketoaciduria BCKD deficiency maple syrup urine disease, type IA BCKDH deficiency maple syrup urine disease, type IB branched-chain 2-ketoacid dehydrogenase deficiency maple syrup urine disease maple syrup urine disease, type II |
| has_narrow_synonym |
maple syrup urine disease, type 2 maple syrup urine disease, type 1A maple syrup urine disease, type 1B |
| has_related_synonym |
maple syrup urine disease, intermittent maple syrup urine disease, classic branched-chain Alpha-Keto acid dehydrogenase deficiency Keto acid decarboxylase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, thiamine-responsive maple syrup urine disease, Intermediate |
| IAO_0000233 | |
| id |
MONDO:0009563 |
| in_subset | |
| label |
maple syrup urine disease |
| notation |
MONDO:0009563 |
| prefLabel |
maple syrup urine disease |
| subClassOf |