Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
metabolic disorder
inborn error of metabolism |
| gptkbp:affects |
children
infants |
| gptkbp:causedBy |
deficiency of adenosylcobalamin
deficiency of cobalamin metabolism deficiency of methylmalonyl-CoA mutase |
| gptkbp:complication |
renal failure
pancreatitis neurological impairment |
| gptkbp:diagnosedBy |
genetic testing
urine organic acid analysis |
| gptkbp:firstDescribed |
1967
|
| https://www.w3.org/2000/01/rdf-schema#label |
Methylmalonic aciduria
|
| gptkbp:ICD-10_code |
E71.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D008767
|
| gptkbp:OMIM |
251000
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
vomiting
failure to thrive lethargy developmental delay metabolic acidosis |
| gptkbp:treatment |
vitamin B12
carnitine supplementation low-protein diet |
| gptkbp:bfsParent |
gptkb:MDA
|
| gptkbp:bfsLayer |
5
|