maple syrup urine disease (Disease)

Synonyms:branched chain ketoaciduria, Ketoacidaemia

Id:DOID:9269

Description: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.

Results found

Linked to

	Label	Description
	SU002857 Subject (Entity type)	A subject from Metabolomics produced as part of the PR001713 project
	SU003927 Subject (Entity type)	A subject from Metabolomics produced as part of the PR002369 project
	SU003928 Subject (Entity type)	A subject from Metabolomics produced as part of the PR002369 project
	SU003926 Subject (Entity type)	A subject from Metabolomics produced as part of the PR002369 project
	DISEASE DOID 9269 Collection (Entity type)	DiseasePage Collection: Maple Syrup Urine Disease (DOID:9269, FILE=tcrd_disease_DOID_009269.json)

SU002857

Subject (Entity type)

A subject from Metabolomics produced as part of the PR001713 project

SU003927

Subject (Entity type)

A subject from Metabolomics produced as part of the PR002369 project

SU003928

Subject (Entity type)

A subject from Metabolomics produced as part of the PR002369 project

SU003926

Subject (Entity type)

A subject from Metabolomics produced as part of the PR002369 project

DISEASE DOID 9269

Collection (Entity type)

DiseasePage Collection: Maple Syrup Urine Disease (DOID:9269, FILE=tcrd_disease_DOID_009269.json)

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Consortium

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Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2025