Hyperlipidaemia due to carnitine palmitoyltransferase I deficiency

Area of Science:

• Biochemistry
• Metabolic Disorders
• Pediatric Neurology

Background:

• Carnitine palmitoyltransferase I (CPT I) deficiency is a rare inherited metabolic disorder affecting fatty acid oxidation.
• Acute encephalopathy is a serious neurological complication that can occur in infants with metabolic disorders.

Observation:

• A 6-month-old patient presented with acute encephalopathy following gastroenteritis.
• The patient exhibited hepatomegaly, elevated transaminases, coagulopathy, and severe hypertriglyceridemia (48.8 mmol/L) and hypercholesterolemia (9.5 mmol/L).
• Hypoglycemia was not observed, distinguishing this case from some other metabolic encephalopathies.

Findings:

• The severe hyperlipidaemia resolved rapidly within 3 days of treatment and did not recur.
• At 2 years of age, the patient demonstrated normal liver function, growth, and development.
• Hyperlipidaemia during acute illness, while previously reported, is not widely recognized as a key feature of CPT I deficiency.

Implications:

• This case highlights that severe hypertriglyceridemia and hypercholesterolemia during acute illness can be a presenting sign of CPT I deficiency.
• Metabolic specialists should consider CPT I deficiency in the differential diagnosis of unexplained hyperlipidaemia in infants presenting with acute illness.
• Early recognition and management of CPT I deficiency are crucial for preventing severe neurological complications and ensuring normal development.