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Table 1 Characteristics and postnatal laboratory results of all patients

From: Infantile Pompe disease with intrauterine onset: a case report and literature review

Patient No

Sex

GA/EFW at PE (weeks/kg)

GA at birth (weeks)

Laboratory results at birth (U/L)

GAA enzymatic activity (Assay site)

GAA mutations

Age at the first ERT

Survival time or FU duration

Respiratory support

1

M

32/2.7

35

AST,89 LDH, 457 CK,1199

Lymphocytes, 0.28 (normal: 4.8–13.3) μkat/kg

1327-2A > G (GAA inro 8)

18 h

Alive at 30 months

No

2

M

34/3.7

40

AST, 208 LDH, 994 CK,3685

Leukocytes, 3.7 (normal: 51–215) nmol/h/mg

1327-2A > G (GAA inro 8)

14 days

Died at 19 months

No

3

F

27/3.8

40

AST, 230 LDH, 1255 CK, 2381

Dried blood, 0.13 (normal: 7.3–39.0) pmol/punch/h

340insT (GAA ex 2–2)

2 h

Alive at 4 months

No

4

F

Not given

Full term

Not given

4 (normal: 24–94) pmoles/h/spot

c.1441 T > C (p.W481R) c.2481 + 109_c.2646 + 38del538

2 months

Alive at 14 months

Yes

5

F

31/3.50

38

BNP, 778 (pg/mL)

Not given

c.2560C > T(p. Arg854X)

2 days

Alive at 50 months

Yes

6

F

30/4.56

38

CK, 478

1.8 (control: 10–49) pmol/punch/h

c.525delT and c.1927 G > A (p.Gly643Arg)

None

Alive at 1.5 months

No

7

F

38/4.09

40

AST, 129 LDH, 1050 CK, 3594

0.31 (normal: 1.46–20.34) µmol/L/h

c.1844G > T(p.Gly615Val) GAA exon 13)

None

Died at 7 months

Yes

  1. Normal range (U/L): AST, 15–40; LDH, 120–250; CK, 50–310
  2. GA Gestational age, EFW Estimated fetal weight, PE Presentation, AST Aspartate aminotransferase, CK Creatine kinase, BNP B-type natriuretic peptide, GAA Acid α-glucosidase, LDH Lactate dehydrogenase, ERT Enzyme replacement therapy, FU Follow-up