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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