Congenital diarrhea with exsudative enteropathy

[MIM 615 863]

(DIAR7, congenital diarrhea protein-losing enteropathy type (see also DIAR10)

Unknown prevalence: very rare cases, initially reported in one Jewish aschkenase family. Autosomal recessive transmission of a mutation of the DGAT1 gene (8q24.3). This gene codes for DGAT1,  an  enzyme (diacylglycerol-O-acyltransferase 1) of the membrane of the endocytic reticulum of the enterocytes that transforms diacylglycerol and acyl-CoA into triacylglycerol (triglyceride). Triacylglycerol is stored in the enterocytes or combines with free fatty acids to form lipid droplets and packaged with cholesterol and proteins to form chylomicrons. In case of lipid overload, the diacylglycerol-O-acyltransferase 1 can reesterify the fatty acids into triglycerides, protecting in that way, the endoplasmic reticulum. One isoform of DGAT1, GDAT2, is much less present in the intestinal cells and does not possess that capacity of reesterification. Very severe diarrhea in the first days of life, disappearing if the exposition to dietary lipids is significantly decreased. Hyperlipemia is associated.

Intestinal biopsy when the diarrhea is active:        villous atrophy with eosinophilic infiltrate and a few lipid droplets at the surface
of the epithelial cells, without lymphatic dilatation.

Treatment:        drastic reduction of lipids (2 to 10 % of caloric needs) in the parenteral and afterwards, in the enteral feeding. Frequent improvement around two years of age if a slight DGAT1 activity persists


Anesthetic implications: 

check hydration and electrolytes; side-effects of parenteral nutrition: vascular thrombosis, repeated sepsis, liver involvement, vitamin ADEK deficiency.


References : 

-        Eldredge JA, Couper MR, Barnett CP, Rawlings L, Couper RTL.
New pathogenic mutations associated with diacylglycerol O-acyltransferase 1 deficiency.
J Pediatr 2021 ; 233 :268-72


Updated: June 2021