CPT1Adeficiencia

CPT1A deficiency is a rare inherited metabolic disorder caused by mutations in the CPT1A gene that reduce the activity of carnitine palmitoyltransferase I in the liver. This enzyme is essential for the transport of long-chain fatty acids into mitochondria for beta-oxidation. When its function is impaired, long-chain fatty acids cannot be efficiently converted to acylcarnitines, leading to decreased energy production from fats, especially during fasting or illness.

The condition is inherited in an autosomal recessive manner. Onset can be neonatal, infancy, or later, with episodes often triggered by fasting, infection, or other stress. Symptoms during a metabolic crisis typically include hypoketotic hypoglycemia, hepatomegaly, liver dysfunction, vomiting, lethargy, and poor feeding. In severe cases, especially in early infancy, crises can progress to coma or liver failure if not promptly treated.

Diagnosis is usually pursued after a suspicious newborn screen or during a metabolic crisis. Newborn screening may reveal a characteristic acylcarnitine profile with low long-chain acylcarnitines (and often low C0), with confirmation by genetic testing of the CPT1A gene and, when needed, measurement of CPT1A enzyme activity in cells.

Management focuses on preventing crises and supporting energy during illness. Key strategies include avoiding prolonged fasting, providing regular high-carbohydrate feeds, and using a diet low in long-chain fats with consideration of medium-chain triglycerides to supply energy. Emergency treatment during illness involves rapid glucose administration. The role of carnitine supplementation is individualized and not routinely recommended. Prognosis varies with severity and early diagnosis. Some populations, such as Inuit groups, have a higher reported incidence due to founder mutations.