Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:affectedPopulation |
all ethnicities
|
| gptkbp:affects |
amino acid metabolism
|
| gptkbp:cause |
coma
neurological damage death if untreated |
| gptkbp:causedBy |
deficiency of branched-chain alpha-keto acid dehydrogenase complex
|
| gptkbp:containsGene |
gptkb:DBT
gptkb:DLD gptkb:BCKDHA gptkb:BCKDHB |
| gptkbp:diagnosedBy |
newborn screening
urine amino acid analysis |
| gptkbp:firstDescribed |
1954
|
| gptkbp:fullName |
Maple Syrup Urine Disease
|
| gptkbp:hasOrphanetID |
ORPHA58
|
| https://www.w3.org/2000/01/rdf-schema#label |
MSUD
|
| gptkbp:ICD-10_code |
E71.0
|
| gptkbp:incidence |
1 in 185,000 infants worldwide
higher in Old Order Mennonite population |
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
characteristic maple syrup odor of urine
|
| gptkbp:OMIM |
248600
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vomiting
lethargy developmental delay poor feeding sweet-smelling urine |
| gptkbp:treatment |
thiamine supplementation
dietary restriction of branched-chain amino acids |
| gptkbp:bfsParent |
gptkb:maple_syrup_urine_disease
|
| gptkbp:bfsLayer |
8
|