Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca

Abstract

Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the gold standard for diagnosis. Treatment includes a high-protein fat-modified diet, and replacements for micronutrients, electrolytes and vitamin deficiencies. Prognosis is variable depending on the underlying cause.