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Table 1 General information, molecular and clinical findings of 7 ASMD patients

From: Neonatal cholestasis is an early liver manifestation of children with acid sphingomyelinase deficiency

 

Gender

First symptoms / Age at first symptoms

SMPD1 variants (NM_000543)

First available liver biochemistry results

Outcome

Age

TB

DB

ALT

AST

GGT

P1

Female

Failure to thrive / 6 months

c.1486 + 5G > C / c.1144C > T (p.L382F)

27 months

5.4

0.4

88

115

18

Lost to follow-up

P2

Male

Abdominal distention / 11 months

c.1458 T > G (p.S486R) / c.1805G > A (p.R602H)

15 months

17.3

6.3

297

412

61

HCST at 4 years old. Alive, 5 years and 3 months

P3

Female

Jaundice / 1 month

c.1458 T > G (p.S486R) / c.1343C > T (p.Y448C)

5 months

47.5

25.3

113

203

128

Died, 3 years and 1 months

P4

Male

Jaundice / 1 month

c.1458 T > G (p.S486R) / c.1553C > T (p.T518I)

4 months

168.0

114.5

19

221

197

Died, 2 years and 6 months

P5

Male

Abdominal pain / 26 months

c.1489 T > C (p.Y497H) / c.1489 T > C (p.Y497H)

26 months

15.3

9.9

105

97

33

Alive, 4 years and 11 months

P6

Male

Failure to thrive / 6 months

c.1624C > T (p.R542X) / c.1458 T > G (p.S486R)

6 months

7.7

2.7

246

346

na

Alive, 1 year and 9 months

P7

Male

Jaundice / 1 month

c.1493G > A (p.R498H) / c.1493G > C (p.R498P)

1.5 months

83.5

36.7

146

438

356

Died, 3 years and 10 months

  1. P, patient; ASMD, acid sphingomyelinase deficiency; TB (μmol/L), total bilirubin; DB (μmol/L), direct bilirubin; ALT (U/L), alanine aminotransferase; AST (U/L), aspartate aminotransferase; GGT (U/L), γ-glutamyl transpeptidase; na, not available; HCST, hematopoietic stem cell transplantation