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Rare case of primary carnitine deficiency presenting as acute liver failure

Shalu Jain1, Karunesh Kumar2, Smita Malhotra2

  • 1Pediatric Gastroenterology, Indraprastha Apollo Hospital, New Delhi, India shalu0927@gmail.com.

BMJ Case Reports
|July 19, 2022
PubMed

Insights

Systemic primary carnitine deficiency (PCD) is a genetic disorder affecting fatty acid oxidation. Early diagnosis and L-carnitine treatment are crucial for preventing severe health issues like liver failure.

Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Systemic primary carnitine deficiency (PCD) is an inherited metabolic disorder.
  • It stems from mutations in the SLC22A5 gene, impacting the OCTN2 carnitine transporter.
  • This deficiency impairs fatty acid oxidation, a critical energy pathway.

Observation:

  • PCD symptoms vary, including liver injury, cardiomyopathy, and myopathy, often triggered by stress or fasting.
  • Acute liver failure is an uncommon but serious presentation in young children.
  • Screening for fatty acid oxidation defects is vital for children with acute liver failure.

Findings:

  • The study identified a patient presenting with acute liver failure due to PCD.
  • Metabolic screening and genetic sequencing confirmed the diagnosis.
  • The patient showed a positive response to L-carnitine treatment.

Implications:

  • Early detection of PCD through metabolic and genetic testing is essential.
  • Prompt L-carnitine supplementation can be lifesaving for affected individuals.
  • This highlights the importance of considering metabolic disorders in unexplained pediatric liver failure.

Keywords:
GeneticsLiver diseasePaediatricsPaediatrics (drugs and medicines)

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