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.