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Artigo | IMSEAR | ID: sea-225790

RESUMO

The disease studiedhere abetalipoproteinemia (ABL) is a very rare autosomal recessive disorder which is caused by microsomal triglyceride alteration in protein gene mutation. ABL is defined by a lack of lipids and apolipoprotein B in the plasma, as well as fat malabsorption and a variety of clinical symptoms. We report a 21-year-old male with a history of persistent diarrhea, steatorrhea, and growth retardation who was born to consanguineous parents. The patient was diagnosed with ABL and was treated with dietary changes and fat-soluble vitamin replacement, as well as being monitored on an outpatient basis.

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