carnitine-acylcarnitine translocase deficiency

A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal

A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31.

Signs and symptoms

• Hepatic steatosis
• Lethargy
• Cardiac arrest
• Reduced circulating 6-pyruvoyltetrahydropterin synthase activity
• Hepatomegaly
• Reduced tissue carnitine-acylcarnitine translocase activity
• Neonatal hypoglycemia
• Elevated circulating creatine kinase activity
• Seizure
• Hypotonia

Also known as: CACT deficiency; CACTD