systemic primary carnitine deficiency disease

created [InstanceEdit:5625621] Jassal, Bijay, 2014-10-06
databaseName DOID
dbId 5625675
definition An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
displayName systemic primary carnitine deficiency disease
identifier 14365
name
  • systemic primary carnitine deficiency disease
referenceDatabase [ReferenceDatabase:1247631] DOID
schemaClass Disease
synonym
  • carnitine uptake defect
  • carnitine transporter deficiency
  • primary carnitine deficiency
  • deficiency of plasma-membrane carnitine transporter
  • renal carnitine transport defect (disorder)
url https://www.ebi.ac.uk/ols4/ontologies/doid/terms?obo_id=DOID:14365
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