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 |