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Table 1 Baseline demographics, mutations, and clinico-pathological data for the 8 patients with classic infantile Pompe disease

From: Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy

Patient ID CRIM status

GAA mutations

Age at diagnosis (mo)

Age at ERT Start (mo)

Biweekly ERT Dose (mg/kg)

Biopsy site and age/CGA (mo)

Clinical outcome on ERT§

Autophagic pathology

1. Male, Israeli Druze +

c.1210G > A (p.Asp404Asn)

0

1.1

20/40

Q, 1.0

Good response; only articulatory disorder remains after 103.9 mo.

Present in 2% of fibers (biopsy after 96 mo. of ERT)

Q, 13.1

c.1064 T > C (p.Leu355Pro)

Q, 97.1

2. Male, Israeli Druze +

c.1064 T > C (p.Leu355Pro) homozygous

4.0; 2.6 CGA

7.0; 5.6 CGA

20

Q, 6.7/ 5.3

Initial developmental progress; decline in muscle strength and function after 89 mo.

Prominent after 96 mo. of ERT; autofluorescent inclusions

Q, 19.0/ 17.6

Q, 103.0/101.6

3. Female, Hispanic +

c.1802C > T* (p.Ser601Leu)

0.2;−0.3 CGA

5.4; 4.9 CGA

20/40

Q, 5.3/4.8

Initial developmental progress and motor gains; decline after 56 mo.

Detected on PAS-stained sections after 12 mo. of ERT

Q, 17.4/16.9

c.1099 T > C (p.Trp367Arg)

Q, 90.4/ 89.9

4. Male, Caucasian +

c.525delT (p.Glu176ArgfsX45)

0;−0.3 CGA

0.5; 0.2 CGA

20

Q, 77.5/77.2

Good response; normal gross motor development, no hypernasal speech up to 81.1 mo.

Present in 60-70% of fibers (biopsy after 77 mo. of ERT); autofluorescent inclusions

c.1642G > T (p.Val548Phe)

5. Male, Caucasian +

c.1933G > A (p.Asp645Asn) homozygous

2.7

2.9

20/40

SCM, 85.9

Motor decline after 35 mo.; gastrostomy tube supplementation

Present in >10% of fibers (biopsies after 83–84 mo. of ERT)

Q, 86.9

6. Female, Caucasian +

c.655G > A (p.Gly219Arg) homozygous

6.5; 5.5 CGA

7.0; 6.0 CGA

20/40

Q, 56.0/55.0

Motor decline after 14 mo.; gastrostomy tube supplementation

Present in occasional fibers (biopsy after 49 mo. of ERT)

7. Female, African-Am. -

c.2560C > T (p.Arg854X) homozygous

5.5; 5.0 CGA

6.3; 5.8 CGA

20

Strap, 7.3/6.8

Limited motor gains, invasive ventilation and gastrojejunostomy tube; death at 21 mo. of age

Not identifiable due to severe muscle deterioration

Q, 20.3/19.8

8. Female, Hispanic -

c.1195-18_2190-20del (p.Asp399ValfsX6) homozygous

5.2

6.0

20/40

S, 24.0

Severe motor impairment; ventilator support and gastrojejunostomy tube

Not identifiable due to severe muscle deterioration

  1. *Allele has two polymorphic sites: c.1726G > A (p.Gly576Ser), c.2065G > A (p.Glu689Lys).
  2. Allele contains c.1880C > T nucleotide change (p.Ser627Phe); function unknown.
  3. Patient 8 received cumulative dose of 40 mg/kg (20 mg/kg weekly). The regimen was increased after one month of therapy.
  4. §Cardiac improvement seen in all patients.
  5. Q: quadriceps muscle.
  6. SCM: sternocleidomastoid muscle.
  7. Strap: anterior neck “strap” muscle.
  8. S: soleus muscle.
  9. +: CRIM-positive.
  10. -: CRIM-negative.