maple syrup urine disease

Term ID

DOID:9269

Synonyms

• branched chain ketoaciduria
• dihydrolipoamide dehydrogenase deficiency
• Ketoacidaemia

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

References

• 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

Ontology

Human Disease   ( DOID:9269 )