systemic primary carnitine deficiency disease

Term ID

DOID:14365

Synonyms

• carnitine transporter deficiency
• carnitine uptake defect
• deficiency of plasma-membrane carnitine transporter
• primary carnitine deficiency
• renal carnitine transport defect

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. http://en.wikipedia.org/wiki/Carnitine_deficiency

References

• ICD10CM:E71.41
• ICD9CM:277.81
• MESH:C536778
• NCI:C98864
• OMIM:212140
• SNOMEDCT_US_2023_03_01:21764004
• UMLS_CUI:C0342788

Ontology

Human Disease   ( DOID:14365 )