Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency

Area of Science:

• Biochemistry
• Genetics
• Pediatrics

Background:

• Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a metabolic disorder affecting fatty acid oxidation.
• Impaired long-chain fatty acid transport into mitochondria is the hallmark of CPT1A deficiency.
• Commonly presents in infancy with hypoglycemia and lethargy, but rare presentations exist.

Purpose of the Study:

• To report a rare case of prolonged cholestatic jaundice in an adolescent with CPT1A deficiency.
• To emphasize the diverse clinical manifestations of CPT1A deficiency.
• To highlight the importance of considering metabolic disorders in atypical presentations.

Main Methods:

• Case report of an adolescent male.
• Clinical evaluation including biochemical assays.
• Diagnostic confirmation of Carnitine palmitoyltransferase 1A deficiency.

Main Results:

• The patient presented with prolonged cholestatic jaundice, an uncommon symptom for CPT1A deficiency.
• The jaundice developed subsequent to a febrile illness.
• Carnitine palmitoyltransferase 1A deficiency was confirmed as the underlying cause.

Conclusions:

• Carnitine palmitoyltransferase 1A deficiency can manifest with prolonged cholestatic jaundice, even in adolescence.
• Febrile illnesses may unmask or exacerbate underlying metabolic disorders like CPT1A deficiency.
• This case expands the spectrum of clinical presentations for fatty acid oxidation disorders.