ISSN - 0973-0958

Pediatric Oncall Journal View Article

Roshni Sonawane.
Department of Pediatrics, Rockingham General Hospital, Western Australia.
Abetalipoproteinemia (ABL) or Bassen–Kornzweig Syndrome is a rare autosomal recessive disorder of lipid metabolism caused by mutations in the microsomal triglyceride transfer protein gene (MTP). There is resultant impairment in the process of lipid transportation mediated by apoprotein B-containing lipoproteins (Apo-B) in the intestine and liver. The characteristic features are very low plasma levels of these lipoproteins and resultant low levels of, triglyceride (TG), cholesterol and fat-soluble vitamins. The salient clinical features are fat malabsorption and acanthocytosis during infancy and neuro-ocular complications during adolescence. Disease surveillance involves monitoring for ophthalmologic, neurologic, hematologic and hepatic complications. The mainstay of treatment is a low-fat diet and high dose vitamin supplementation. Early diagnosis and management can prevent disease progression. This review is a summary of the genetic, metabolic and clinical features including the available management options.

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