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Abetalipoproteinemia in a Saudi infant

Muhammad Rafique1, Shumaila Zia

  • 1Department of Paediatrics, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia. rafiquelhr@yahoo.com

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP
|February 22, 2011
PubMed

Insights

Abetalipoproteinemia, a rare genetic disorder, can cause failure to thrive in infants. Early diagnosis and treatment with medium chain triglyceride formula and fat-soluble vitamins are crucial for improvement.

Area of Science:

  • Genetics and Metabolic Disorders
  • Pediatric Gastroenterology

Background:

  • Abetalipoproteinemia is an ultra-rare autosomal recessive genetic disorder.
  • Characterized by impaired absorption of dietary fats and fat-soluble vitamins.

Observation:

  • A 5-month-old Saudi infant presented with chronic diarrhea and failure to thrive.
  • Physical examination revealed cachexia and acanthocytes in peripheral blood smear.
  • Laboratory tests showed a markedly abnormal lipid profile.

Findings:

  • The patient demonstrated significant clinical improvement upon initiation of medium chain triglyceride (MCT) formula.
  • Administration of fat-soluble vitamins also contributed to recovery.

Implications:

  • Highlights the importance of early recognition of abetalipoproteinemia symptoms in infants.
  • Emphasizes the efficacy of MCT formula and vitamin supplementation in managing this condition.
  • Underscores the need for timely diagnosis and intervention to prevent severe malnutrition and developmental issues.

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