OBO ID: DOID:9269
Term Name: maple syrup urine disease Search Ontology:
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 maple syrup urine disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BCKDHA Maple syrup urine disease, type Ia 248600
DLD Dihydrolipoamide dehydrogenase deficiency 246900
PPM1K ?Maple syrup urine disease, mild variant 615135
PHENOTYPE No data available

CITATIONS (2)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.