Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
|
| gptkbp:affects |
infants
amino acid metabolism |
| gptkbp:alsoKnownAs |
gptkb:MSUD
|
| gptkbp:category |
inborn error of metabolism
|
| gptkbp:cause |
accumulation of leucine, isoleucine, and valine
|
| gptkbp:causedBy |
deficiency of branched-chain alpha-keto acid dehydrogenase complex
|
| gptkbp:complication |
coma
neurological damage death if untreated |
| gptkbp:diagnosedBy |
newborn screening
urine amino acid analysis |
| gptkbp:firstDescribed |
1954
|
| https://www.w3.org/2000/01/rdf-schema#label |
maple syrup urine disease
|
| gptkbp:ICD-10_code |
E71.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:involvedIn |
gptkb:DBT
gptkb:DLD gptkb:BCKDHA gptkb:BCKDHB |
| gptkbp:namedFor |
characteristic odor of urine
|
| gptkbp:OMIM |
248600
|
| gptkbp:prevalence |
rare
|
| gptkbp:riskFactor |
gptkb:Old_Order_Mennonite_population
|
| gptkbp:symptom |
vomiting
seizures lethargy developmental delay poor feeding sweet-smelling urine |
| gptkbp:treatment |
thiamine supplementation
dietary restriction of branched-chain amino acids |
| gptkbp:bfsParent |
gptkb:BCKDHA
|
| gptkbp:bfsLayer |
7
|