DISEASES

Disease-gene associations mined from literature

Human genes for systemic primary carnitine deficiency disease

Systemic primary carnitine deficiency disease [DOID:14365]

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.

Synonyms:  systemic primary carnitine deficiency disease,  DOID:14365,  systemic primary carnitine deficiency disorder,  systemic primary carnitine deficiency syndrome,  carnitine transporter deficiency ...

Linkouts:  OMIM