Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:9269 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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