Published: 2022-03-24

A rare case of abetalipoproteinemia

Dheeraj Agarwal, Supriya Barsode, Dadasaheb G. Maindad, Nihal Uday Shah, Apurva Ajay Maindarkar, Vijay S. Kulkarni


The disease studied here 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.


Apolipoprotein B, ABL, Fat malabsorption, Steatorrhea, Growth retardation

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