Carnitine Palmitoyltransferase I Deficiency (CPT1AD)

Alias:

Carnitine Palmitoyl Transferase 1a Deficiency

Cpt1a Deficiency

Hepatic Carnitine Palmitoyl Transferase 1 Deficiency

Hepatic Carnitine Palmitoyl Transferase I Deficiency

Carnitine Palmitoyl Transferase Ia Deficiency

L-Cpt1 Deficiency

Cpt I Deficiency

Carnitine Palmitoyltransferase Ia Deficiency

Carnitine Palmitoyltransferase 1a Deficiency

Cpt Deficiency, Hepatic, Type Ia

Cpt Deficiency, Hepatic, Type I

L-Cpti Deficiency

Liver Form of Carnitine Palmitoyltransferase Deficiency

Hepatic Carnitine Palmitoyltransferase 1 Deficiency

Hepatic Cpt Deficiency Type I

Cpt 1a Deficiency

Cpt-I Deficiency

Cpt1ad

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Carnitine Palmitoyltransferase I Deficiency, also known as carnitine palmitoyl transferase 1a deficiency, is related to metabolic dysfunction-associated steatotic liver disease and organic acidemia, and has symptoms including diarrhea, lethargy and seizures. An important gene associated with Carnitine Palmitoyltransferase I Deficiency is CPT1A (Carnitine Palmitoyltransferase 1A), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. Affiliated tissues include liver and skeletal muscle, and related phenotypes are seizure and hypotonia

Related ID：

MALACARDS：CRN295

OMIM：255120