Table 1 Clinical information for all infants

Demographics

Sex

M

F

F

M

F

Birth Weight

3.2 kg (Z=-0.3)

3.48 kg (Z = 0.53)

2.75 kg (Z=-1.11)

3.7 kg (Z = 0.7)

3 kg

(Z=-0.52)

Age of onset

within three days after birth

14days

within three days after birth

within three days after birth

12days

Age of first visit

2mo

4.5mo

3mo

2mo

8mo

Age of diagnosis

4mo

7mo

4.5mo

2.5mo

9mo

Admission weight

4.56 kg (Z=-3.2)

5.2 kg (Z=-3.03)

2.2 kg (Z=-6.31)

4.4 kg (Z=-4.89)

3.5 kg (Z=-6.08)

Admission length

56 cm (Z=-2.86)

65 cm (Z=-0.36)

53 cm (Z=-2.92)

59 cm (Z=-3.76)

68 cm (Z=-0.32)

Mutation situation

DGAT1 gene mutation site

c.1073G > C,

C.1072 C > T

c.856 − 12_876del,c.69_82del

c.1215_c.1216delAG, c.838 C > T

c.1215_c.1216 delAG ,c.1049 C > T

c.895-1G > A,c.513 C > G

Mutant type

Compound heterozygous mutation

Compound heterozygous mutation

Compound heterozygous mutation

Compound heterozygous mutation

Compound heterozygous mutation

Amino acid changes

p.R358P,p.R358W

p.L286_Q292del,p.P24Rfs*51

p. Phe408fsTer74,

p. Arg280Ter, 209

p.Phe408fsTer74, p. Ala350Val

p.?,p.Asn171Lys

Clinical manifestations

Vomitting

√

√

×

√

√

Diarrhea

√

√

√

√

×

Defecation frequency

5–9 times/day

5–6 times/day

4 times/day

7–8 times/day

1–2 times/day

Malnutrition

√

√

√

√

√

Gastroenteroscopy

duodenitis, short villi of the small intestine

Gastric sinusitis, rough duodenal mucosa, rectocolitis

Not done

Not done

Lower esophagitis, hiatal hernia? erosive gastritis

Treatment

PN

√

√

√

√

×

Hydrolyzed formula

√

√

√

√

√

Amino acid formula

√

√

×

√

×

Low-fat amino acid formula

√

√

√

√

√

Low-fat diet + MCT

√

×

√

√

√

Prognosis

weight 14.1 kg(Z = 0.4), height 91 cm (Z = -0.44) at 30 months

weight 12 kg(Z = 0.54), height 85 cm (Z = 0.12) at 22 months

weight 11.5 kg(Z = 0.12), height 79 cm (Z = -1.91) at 24 months

weight 11 kg(Z = -0.52), height 82 cm (Z = -1.02) at 21 months

weight 11.8 kg(Z = 0.65), height 80 cm (Z = -1.01) at 21 months