Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal (CPT2DLN)

Alias:

Cpt Ii Deficiency, Lethal Neonatal

Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form

Carnitine Palmitoyltransferase Ii Deficiency, Antenatal

Carnitine Palmitoyltransferase Ii Deficiency, Neonatal

Cpt2 Deficiency, Lethal Neonatal

Carnitine Palmitoyl Transferase Deficiency Type 2, Lethal Systemic Form

Carnitine Palmitoyl Transferase Ii Deficiency, Lethal Systemic Form

Carnitine Palmitoyl Transferase Deficiency Type 2, Neonatal Form

Carnitine Palmitoyltransferase 2 Deficiency, Lethal Neonatal

Lethal Neonatal Cpt-Ii Deficiency

Cptii, Lethal Systemic Form

Cpt2, Lethal Systemic Form

Cptii, Neonatal Form

Cpt2, Neonatal Form

Cpt2dln

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal, also known as cpt ii deficiency, lethal neonatal, is related to carnitine palmitoyltransferase ii deficiency, infantile and carnitine palmitoyltransferase ii deficiency, myopathic, stress-induced, and has symptoms including apnea, lethargy and seizures. An important gene associated with Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal is CPT2 (Carnitine Palmitoyltransferase 2). Affiliated tissues include kidney and heart, and related phenotypes are myoglobinuria and decreased plasma total carnitine

Related ID：

MALACARDS：CRN302

OMIM：608836

MESH：D008661