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
BCKDHB Maple syrup urine disease, type Ib 248600
DBT Maple syrup urine disease, type II 248600
DLD Dihydrolipoamide dehydrogenase deficiency 246900
PPM1K ?Maple syrup urine disease, mild variant 615135
ZEBRAFISH MODELS
Fish Conditions Citations
dbtti274/ti274 standard conditions Friedrich et al., 2012
PHENOTYPE No data available

CITATIONS (1)