carnitine uptake defect

GPTKB entity

Statements (19)
Predicate Object
gptkbp:instanceOf genetic disorder
metabolic disorder
gptkbp:affects fatty acid oxidation
gptkbp:alsoKnownAs gptkb:primary_carnitine_deficiency
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 carnitine uptake defect
gptkbp:inheritance autosomal recessive
gptkbp:OMIM 212140
gptkbp:prevalence rare
gptkbp:symptom muscle weakness
cardiomyopathy
hepatomegaly
hypoketotic hypoglycemia
gptkbp:treatment oral carnitine supplementation
gptkbp:bfsParent gptkb:solute_carrier_family_22_member_5
gptkbp:bfsLayer 7