Carnitine Palmitoyltransferase Type I Deficiency

Baby Detect > Metabology > Carnitine Palmitoyltransferase Type I Deficiency

CPT1A gene

Also known as: CPT1; CPT1A deficiency; L-CPT1 deficiency

(OMIM#255120 https://omim.org/entry/255120)

1. The disease:

Carnitine palmitoyltransferase 1A (CPT-1A) deficiency is an inborn error of metabolism, which affects mitochondrial oxidation of long chain fatty acids (LCFA) in the liver and kidneys, and is characterized by recurrent attacks of fasting-induced hypoketotic hypoglycemia and risk of liver failure.

2. The symptoms:

First symptoms of CPT-1A deficiency appear between birth and 18 months of age with recurrent attacks of hypoketotic hypoglycemia of varying severity, triggered by fasting or intercurrent illness, that can lead to severe neurological sequelae. Patients can also present with hepatic encephalopathy with loss of consciousness, seizures, coma, or even sudden death. There may be a risk of progression to liver failure. Patients with severe CPT-1A deficiency may also have renal tubular acidosis. Lack of early signs or symptoms does not exclude the diagnosis.

3. Actions to take in case of early diagnosis

  • Infants with a positive genetic test (having 2 pathogenic variants or 2 copies of a single pathogenic variant in the gene CPT1A) should continue breastfeeding and avoid baby formulas and fasting. Early treatment is essential in preventing chronic symptoms.
  • Biochemical correlation is essential for confirming diagnosis with plasma acylcarnitines profile. Biochemical NBS with tandem mass spectrometry can also help.
  • CPT1A is a lifelong disease that requires lifetime management and regular follow-up with a metabolic physician and dietician, a part from a multidisciplinary approach to care.
  • Genetic counseling is highly recommended for family planning and evaluation of at-risk family members such as siblings.

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