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Table 1 Characteristics of published DGAT1 deficiency patients

From: DGAT1 mutations leading to delayed chronic diarrhoea: a case report

Patient Descent Onset age Features Nutrition support Other Treatment Outcome
Patient 1 [4] Ashkenazi Jewish 0.1 month vomiting, diarrhoea, malnutrition, hypertriglyceridemia, hypoalbuminemia TPN, gastrostomy tube feeding with amino acid-based formula albumin infusion died
Patient 2 [4] Ashkenazi Jewish 0.1 month diarrhoea, hypertriglyceridemia, hypoalbuminemia TPN and amino acid-based formula feeding albumin infusion, cholestyramin thrived at 46 months of age on an unrestricted diet
Patient 3 [5] Arab-Muslim 2 months diarrhoea, extremity edema, cachectic with FTT, hypertriglyceridemia, hypoalbuminemia amino acid-based formula feeding, later with PN and Monogen formula albumin and IVIG infusion, metronidazole infusion discharged home without diarrhoea
Patient 4 [5] Arab-Muslim NM diarrhoea, edema, weight loss and skin abscesses NM NM died
Patient 5 [5] Ashkenazi Jewish 0.27 months diarrhoea, FTT, edema, hypotonia TPN and amino acid-based formula feeding chicken soup formula mixed with rice water and ORS improved on a regular diet except for dairy products
Patient 6 [5] Ashkenazi Jewish sooner after birth diarrhoea, hypertriglyceridemia TPN chicken soup formula mixed with rice water and ORS maintained his weight albumin on enteral feeding
Patient 7 [5] NM NM NM NM NM NM
Patient 8 [5] NM NM NM NM NM NM
Patient 9 [6] South Asian shortly after birth diarrhoea, FTT, hypertriglyceridemia PN, gastrostomy tube feeding with a hydrolyzed formula blood cell transfusion, IVIG transitioned to a diet containing no more than 10% calories from fat
Patient 10 [6] South Asian shortly after birth diarrhoea NM NM improved on a very low fat enteral diet.
Patient 11 [7] Turkish birth vomiting, diarrhoea, FTT, hypoalbuminemia Fat-free fomula and MCT albumin infusion no diarrhoea and normal growth with low-fat diet +MCT + fat-free formula
Patient 12 [7] Turkish birth vomiting, diarrhoea, FTT, hypoalbuminemia NM albumin infusion died
Patient 13 [7] Turkish 0.75 months vomiting, diarrhoea, FTT, hypertriglyceridemia, hypoalbuminemia TPN albumin infusion diarrhoea improved with basic formula feeding
Patient 14 [7] Turkish 2 months vomiting, diarrhoea, FTT, hypoalbuminemia NM cholestyramine diarrhoea improved
Patient 15 [7] Turkish 1.3 months vomiting, diarrhoea, FTT, hypoalbuminemia hydrolyzed formula Creon pancreatic lipase diarrhoea improved but remained malnutrition
Patient 16 [7] Turkish 2.5 months vomiting, diarrhoea, FTT NM Creon pancreatic lipase diarrhoea improved
Patient 17 [7] Caucasian 1 month vomiting infusion of Intralipid and Omegaven suppletion of lipid soluble vitamins NM enteral feeding without fat
Patient 18 [7] Caucasian 1 month vomiting, FTT infusion of Intralipid and Omegaven suppletion of lipid soluble vitamins NM enteral feeding without fat
Patient 19 [7] Caucasian birth vomiting, diarrhoea, FTT, hypoalbuminemia TPN small bowel transplantation still stunted
Patient 20 [7] Caucasian birth vomiting, diarrhoea, FTT, hypoalbuminemia TPN, fat-free formula NM still stunted
Patient 21 [8] Caucasian 1 month vomiting, diarrhoea, malnutrition, hypoalbuminemia TPN, nasojejunal tube feeding with amino acid-based formula antibiotics improved on a low-fat diet
Patient 22 [14] Chinese birth vomiting, watery diarrhoea TPN albumin and IVIG infusion died
Patient 23 [14] Chinese birth edema,watery diarrhoea TPN, enteral nutrition albumin and IVIG infusion died
  1. TPN Total parenteral nutrition, PN Parenteral nutrition, IVIG Intravenous immune globulin, NM Not mentioned, FTT Failure to thrive, MCT Medium-chain triglyceride, ORS Oral rehydration solution