A rare case of abetalipoproteinemia
Artigo
| IMSEAR
| ID: sea-225790
ABSTRACT
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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Índice:
IMSEAR (Sudeste Asiático)
Ano de publicação:
2022
Tipo de documento:
Artigo
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