FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term systemic primary carnitine deficiency disease ID (Ontology) DOID:14365 (Human Disease)
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.
Also Known As "carnitine transporter deficiency" ; "carnitine uptake defect" ; "deficiency of plasma-membrane carnitine transporter" (for all, see Synonyms field below)
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 systemic primary carnitine deficiency disease       4
 for disease ribbon | systemic primary carnitine deficiency disease       4
 model of | systemic primary carnitine deficiency disease       4
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__amino acid metabolic disorder
       |__systemic primary carnitine deficiency disease  4 rec.
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Is a amino acid metabolic disorder
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Synonyms
  • "carnitine transporter deficiency" EXACT
    "carnitine uptake defect" EXACT
    "deficiency of plasma-membrane carnitine transporter" EXACT
    "primary carnitine deficiency" EXACT
    "renal carnitine transport defect" EXACT
Secondary IDs
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ICD10CM:E71.41
ICD9CM:277.81
MESH:C536778
MIM:212140
NCI:C98864
SNOMEDCT_US_2023_03_01:21764004
UMLS_CUI:C0342788