loading...| Preferred Name |
maple syrup urine disease |
|
| Synonyms |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B maple syrup urine disease, Intermediate Keto acid decarboxylase deficiency maple syrup urine disease, thiamine-responsive branched-chain Alpha-Keto acid dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, classic maple syrup urine disease, intermittent Ketoacidaemia maple syrup urine disease branched-chain 2-ketoacid dehydrogenase deficiency BCKDH deficiency BCKD deficiency branched-chain ketoaciduria branched chain ketoaciduria MSUD |
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| Definitions |
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. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0009563 |
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| closeMatch | ||
| database_cross_reference |
Orphanet:511 NANDO:1200791 NANDO:2200473 UMLS:C0024776 icd11.foundation:1623706568 MESH:D008375 ICD10CM:E71.0 MedDRA:10026817 OMIMPS:248600 SCTID:27718001 NCIT:C34806 DOID:9269 GARD:3228 NORD:1400 |
|
| 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. |
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| exactMatch |
http://purl.obolibrary.org/obo/Orphanet_511 http://linkedlifedata.com/resource/umls/id/C0024776 http://identifiers.org/mesh/D008375 http://purl.obolibrary.org/obo/DOID_9269 https://omim.org/phenotypicSeries/PS248600 http://identifiers.org/snomedct/27718001 |
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| has_exact_synonym |
Ketoacidaemia maple syrup urine disease branched-chain 2-ketoacid dehydrogenase deficiency BCKDH deficiency BCKD deficiency branched-chain ketoaciduria branched chain ketoaciduria MSUD |
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| has_narrow_synonym |
maple syrup urine disease, type 1A maple syrup urine disease, type 2 maple syrup urine disease, type 1B |
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| has_related_synonym |
maple syrup urine disease, Intermediate Keto acid decarboxylase deficiency maple syrup urine disease, thiamine-responsive branched-chain Alpha-Keto acid dehydrogenase deficiency dihydrolipoamide dehydrogenase deficiency maple syrup urine disease, classic maple syrup urine disease, intermittent |
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| IAO_0000233 | ||
| id |
MONDO:0009563 |
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#prototype_pattern http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
maple syrup urine disease |
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| notation |
MONDO:0009563 |
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| preferred label |
maple syrup urine disease |
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| prefLabel |
maple syrup urine disease |
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| subClassOf |