Statements (25)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
branched-chain amino acid metabolism
|
| gptkbp:complication |
coma
neurological damage death if untreated |
| gptkbp:diagnosedBy |
genetic testing
amino acid analysis |
| gptkbp:fullName |
Maple Syrup Urine Disease type IA
|
| https://www.w3.org/2000/01/rdf-schema#label |
MSUD type IA
|
| gptkbp:ICD-10_code |
E71.0
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:BCKDHA_gene
|
| gptkbp:namedAfter |
maple syrup odor of urine
|
| gptkbp:OMIM |
248600
|
| gptkbp:onset |
neonatal period
|
| 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_type_IA
|
| gptkbp:bfsLayer |
8
|