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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

GARD:3228

ICD10CM:E71.0

MESH:D008375

NCI:C34806

OMIM:246900

OMIM:248600

OMIM:615135

ORDO:511

SNOMEDCT_US_2023_03_01:27718001

UMLS_CUI:C0024776

Subsets

DO_rare_slim

NCIthesaurus

Synonyms

branched chain ketoaciduria [EXACT]

dihydrolipoamide dehydrogenase deficiency [RELATED]

dihydrolipoamide dehydrogenase deficiency [RELATED]

Ketoacidaemia [EXACT]

Parent Relationships

is_a organic acidemia

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