Table 1 Demographics of our patients

Number of cases (n = 27)

9 (33%)

3 (11%)

14 (52%)

1 (4%)

Sex

Male

5 (56%)

1 (33%)

8 (57%)

1 (100%)

Female

4 (44%)

2 (67%)

6 (43%)

0 (0%)

Molecular diagnosis

p.Leu483Pro/p.Leu483Pro

–

–

11 (79%)

–

p.Leu483Pro/p.Val414Leu

4 (44%)

–

–

–

p.Leu483Pro/p.Asp448His

–

–

2 (14%)

–

p.Leu483Pro/RecNciI^†

–

1 (33%)

1 (7%)

–

p.Leu483Pro/p.Asn227Ser

1 (11%)

–

–

–

p.Leu483Pro/p.Asn409Ser

1 (11%)

–

–

–

p.Leu483Pro/p.Phe252Ile

1 (11%)

–

–

–

p.Leu483Pro/p.Arg170His

1 (11%)

–

–

–

p.Leu483Pro/p.Arg159Trp

–

–

–

1 (100%)

RecNciI/p.Asp448His

–

1 (33%)

–

–

RecNciI/p.Arg159Trp

1 (11%)

–

–

–

p.Phe252Val/p.328Alafs*12

–

1 (33%)

–

–

Category of diagnosis

Clinical (n = 21)

8 (38%)

1 (5%)

12 (57%)

–

Newborn screening (n = 6)

1 (17%)

2 (33%)

2 (33%)

1 (17%)

Initial presentation

Hepatosplenomegaly

8 (89%)

2 (67%)

12 (86%)

0 (0%)

Anemia/thrombocytopenia

7 (78%)

1 (33%)

12 (86%)

0 (0%)

Bone pain/bone crisis

3 (33%)

0 (0%)

2 (14%)

0 (0%)

Abnormal eye movements

0 (0%)

2 (67%)

1 (7%)

0 (0%)

Poor feeding

0 (0%)

2 (67%)

0 (0%)

0 (0%)

Ichthyosis

0 (0%)

1 (33%)

0 (0%)

0 (0%)

Median [IQR] age at diagnosis, years

Clinical diagnosis

24.41 [3.72–35.65]

0.92

2.52 [1.87–8.70]

–

Newborn screening

0.08

0.14

0.26

0.08

Median [IQR] age at ERT, years

Clinical diagnosis

29.44 [3.68–42.91]

–^‡

3.17 [2–16.75]

–

Newborn screening

2.83

0.56

0.66

–

Treatment^§

ERT

9 (100%)

1 (33%)

14 (100%)

–

SRT

1 (11%)

0 (0%)

6 (43%)

–

Ambroxol

1 (11%)

0 (0%)

5 (36%)

–

HSCT

0 (0%)

1 (33%)

0 (0%)

–

Splenectomy

4 (44%)

0 (0%)

2 (14%)

–

5-year survival rate

100%

0%

100%

0%