systemic carnitine deficiency

GPTKB entity

Statements (28)
Predicate Object
gptkbp:instanceOf gptkb:disease
gptkbp:affects gptkb:skeletal_muscle
heart
liver
gptkbp:alsoKnownAs gptkb:carnitine_uptake_defect
gptkb:primary_carnitine_deficiency
gptkbp:category inborn error of metabolism
fatty acid oxidation disorder
gptkbp:causedBy mutations in SLC22A5 gene
gptkbp:complication gptkb:arrhythmia
sudden death
gptkbp:diagnosedBy genetic testing
plasma carnitine measurement
gptkbp:firstDescribed 1975
https://www.w3.org/2000/01/rdf-schema#label systemic carnitine deficiency
gptkbp:ICD-10_code E71.4
gptkbp:inheritance autosomal recessive
gptkbp:OMIM 212140
gptkbp:prevalence rare
gptkbp:symptom muscle weakness
failure to thrive
cardiomyopathy
hepatomegaly
hypoketotic hypoglycemia
gptkbp:treatment oral carnitine supplementation
gptkbp:bfsParent gptkb:OCTN2
gptkb:solute_carrier_family_22_member_5
gptkbp:bfsLayer 7