Carnitine Deficiency, Systemic Primary (CDSP)

Alias:

Systemic Primary Carnitine Deficiency

Renal Carnitine Transport Defect

Cdsp

Systemic Carnitine Deficiency

Carnitine Uptake Defect

Cud

Deficiency of Plasma-Membrane Carnitine Transporter

Carnitine Transporter Deficiency

Carnitine Uptake Deficiency

Systemic Primary Carnitine Deficiency Disease

Carnitine Deficiency, Primary

Primary Carnitine Deficiency

Carnitine Transporter Defect

Spcd

Carnitine Deficiency, Systemic, Due to Defect in Renal Reabsorption of Carnitine

Carnitine Transporter, Plasma-Membrane, Deficiency of

Carnitine Transport Defect

Scd

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Carnitine Deficiency, Systemic Primary, also known as systemic primary carnitine deficiency, is related to abdominal obesity-metabolic syndrome 1 and homocystinuria, and has symptoms including muscle weakness An important gene associated with Carnitine Deficiency, Systemic Primary is SLC22A5 (Solute Carrier Family 22 Member 5), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Quinidine and Dextromethorphan have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are muscle weakness and hepatomegaly

Related ID：

MALACARDS：CRN239

OMIM：212140

MESH：C536778