primary carnitine deficiency
GPTKB entity
Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
metabolic disorder |
| gptkbp:affects |
fatty acid oxidation
|
| gptkbp:cause |
gptkb:arrhythmia
liver dysfunction sudden infant death |
| gptkbp:causedBy |
mutations in SLC22A5 gene
|
| gptkbp:diagnosedBy |
genetic testing
low plasma carnitine levels |
| gptkbp:firstDescribed |
1975
|
| https://www.w3.org/2000/01/rdf-schema#label |
primary carnitine deficiency
|
| gptkbp:ICD-10_code |
E71.4
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
212140
|
| gptkbp:otherName |
gptkb:carnitine_uptake_defect
systemic primary carnitine deficiency |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
muscle weakness
failure to thrive cardiomyopathy hepatomegaly hypoketotic hypoglycemia |
| gptkbp:treatment |
oral carnitine supplementation
|
| gptkbp:bfsParent |
gptkb:OCTN2
gptkb:OCTN2_protein gptkb:solute_carrier_family_22_member_5 |
| gptkbp:bfsLayer |
7
|