|OBO ID: DOID:9269|
|Term Name:||maple syrup urine disease||Search Ontology:|
|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|
|Ontology:||Human Disease (DOID:9269)|
|is a type of:||
OTHER maple syrup urine disease PAGES
|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|
PHENOTYPE No data available
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