Abetalipoproteinemia : a novel mutation of microsomal triglyceride transfer protein (MTP)‎ gene in a young Tunisian patient

Abstract EN

Abetalipoproteinemia (ABL), or Bassen–Kornzweig syndrome, is a rare autosomal recessive disorder of lipoprotein metabolism, characterized by fat malabsorption, hypocholesterolemia, retinitis pigmentosa, progressive neuropathy and acanthocytosis.

We report the case of a Tunisian male child born from consanguineous marriage.

He presented at the age of 4 months with failure to thrive, greasy stool and vomiting.

His clinical phenotype and serum lipid profile suggested the diagnosis of ABL.

The MTP gene analysis revealed a novel homozygous mutation [c.2313-2314delinsAA (p.771Tyr>x)].

The parents were heterozygous for the same mutation.