Carnitine Palmitoyltransferase Ii Deficiency, Infantile(CPT2DI)

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Carnitine Palmitoyltransferase Ii Deficiency, Infantile (CPT2DI)

别称：

Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form

Cpt Ii Deficiency

Carnitine Palmitoyltransferase Ii Deficiency with Hypoketotic Hypoglycemia

Carnitine Palmitoyltransferase Ii Deficiency, Hepatocardiomuscular

Lethal Neonatal Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase Ii Deficiency, Late-Onset

Late-Onset Carnitine Palmitoyltransferase Ii Deficiency

Infantile Carnitine Palmitoyltransferase Ii Deficiency

Carnitine Palmitoyltransferase Deficiency Type 2

Carnitine Palmitoyl Transferase 2 Deficiency

Cpt Ii Deficiency, Hepatic

Cpt2 Deficiency, Infantile

Cpt-Ii

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

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

Cpt2di

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

Carnitine palmitoyltransferase II deficiency is an inherited disorder affecting mitochondrial long-chain fatty acid oxidation. The severe infantile form typically presents between 6 and 24 months with recurrent hypoketotic hypoglycemia, seizures, liver failure, and transient hepatomegaly. Heart involvement with cardiomyopathy and arrhythmia can also occur. Episodes are triggered by infections, fever, or fasting. Laboratory studies show hyperammonemia, metabolic acidosis, and hypoketotic hypoglycemia with elevated creatine kinase levels. There are three forms of the disorder: lethal neonatal, severe infantile, and myopathic, all caused by mutations in the CPT2 gene. The neonatal form leads to respiratory and liver failure, cardiomyopathy, and hypoketotic hypoglycemia. The severe infantile form involves liver, heart, and muscle issues, with risks of liver failure, nervous system damage, and sudden death. The myopathic form is characterized by muscle pain and weakness, with episodes triggered by various factors. Males are more commonly affected than females.