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Article

Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene.

Metabolism: clinical and experimental - 1 Apr 2010

Cefalù Angelo B, Calvo Pier L, Noto Davide, Baldi Maurizio, Valenti Vincenza, Lerro Pietro, Tramuto Fabio, Lezo Antonella, Morra Isabella, Cenacchi Giovanna, Barbera Cristiana, Averna Maurizio R

Abstract excerpt

Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of consanguineous, apparently healthy parents from Morocco, with failure to thrive. There was a large...

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PMID: 19846172
DOI: 10.1016/j.metabol.2009.07.042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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