Carnitine palmitoyltransferase deficiency type 2 (CPT-II)

Alternative name	Carnitine palmitoyltransferase deficiency, type II
About the condition	CPT-II deficiency is a long-chain fatty acid oxidation disorder. It is a hereditary disease that is caused by a missing enzyme needed to convert fat into energy. It is usually associated with cardiomyopathy and liver disease. Later-onset and milder variants may cause muscle disease only.
Inheritance	Autosomal recessive
Year screening started in WA	2005
Incidence in Australia	Currently unknown
Enzyme defect	Caused by defects in the CPT2 gene, which encodes carnitine palmitoyltransferase II, an enzyme that participates in long-chain fatty acid oxidation.
Symptoms if untreated	Hypoketotic hypoglycaemia Cardiomyopathy, arrhythmia Renal malformations Hepatomegaly Coma and death possible Adult form with skeletal myopathy only
Metabolites on bloodspot screening	Increased long-chain acylcarnitines (C16 and C18:1) Increased (C16+C18:1)/C2 ratio
Diagnostic tests	Plasma acylcarnitine profile Urine organic acids Lymphocyte CPT2 enzymology CPT2 gene analysis
Treatment	Medium chain triglyceride supplementation Carnitine supplementation Cornstarch supplementation Avoidance of fasting IV glucose during illness
Screening issues	Even with treatment, the severe infantile form of CPT-II may be fatal.