Carnitine palmitoyltransferase deficiency type 1 (CPT-I)

Alternative name	Hepatic carnitine palmitoyltransferase deficiency, type I
About the condition	CPT-I 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 hypoglycaemia and liver disease.
Inheritance	Autosomal recessive
Year screening started in WA	2005
Incidence in Australia	Currently unknown
Enzyme defect	Caused by defects in the CPT1A gene, which encodes carnitine palmitoyltransferase IA, an enzyme that participates in long-chain fatty acid oxidation.
Symptoms if untreated	Hypoketotic hypoglycaemia Hyperammonaemia Hepatomegaly Renal tubular acidosis Coma and death possible
Metabolites on bloodspot screening	Increased free carnitine (C0) Decreased long-chain acylcarnitines (C16 and C18)
Diagnostic tests	Plasma acylcarnitine profile Urine organic acids CPT1A gene analysis
Treatment	Dietary restriction of long-chain fatty acids Medium chain triglyceride supplementation Cornstarch supplementation Avoidance of fasting IV glucose during illness
Screening issues	There are milder variants in some populations of unknown clinical significance.