Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

Alias:

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt Ii Deficiency, Infantile

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt Ii Deficiency

Cptii

Cpt2

Carnitine Palmitoyl Transferase Deficiency Type 2, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Ii Deficiency, Hepatocardiomuscular Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Severe Infantile Form

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase 2 Deficiency, Infantile

Carnitine Palmitoyltransferase 2 Deficiency

Cptii, Hepatocardiomuscular Form

Cpt Deficiency, Hepatic, Type Ii

Cpt2, Hepatocardiomuscular Form

Cptii, Severe Infantile Form

Cpt2, Severe Infantile Form

Cpt2 Deficiency

Cpt-Ii

Cpt2di

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Carnitine Palmitoyltransferase Ii Deficiency, Infantile, also known as carnitine palmitoyltransferase ii deficiency, is related to carnitine palmitoyltransferase ii deficiency, lethal neonatal and carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced, and has symptoms including muscle cramp, muscular stiffness and myalgia. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Infantile is CPT2 (Carnitine Palmitoyltransferase 2), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs (3-Carboxy-2-(R)-Hydroxy-Propyl)-Trimethyl-Ammonium and Glycerin have been mentioned in the context of this disorder. Affiliated tissues include liver and heart, and related phenotypes are muscle weakness and myalgia

Related ID：

MALACARDS：CRN296

OMIM：600649

MESH：C535589