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Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report.
J Inherit Metab Dis 2010; 33 Suppl 3:S389-93JI

Abstract

Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients with infantile-onset PD have shown that enzyme replacement therapy (ERT) with alglucosidase alfa, recombinant human GAA (rhGAA), significantly prolongs survival, decreases cardiomegaly, and improves cardiac function and conduction abnormalities. However, the efficacy on motor, cognitive and social milestones appears to be more related to the condition of the patient before the start of treatment. To date, the sample of early diagnosed and treated patients is small and the length of follow-up is still limited. We report the results of a long-term follow-up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT. Serum muscle enzymes at diagnosis were AST 200 U/L, ALT 99 U/L and CPK 731 U/L (n.v. 0-295); the molecular study identified the homozygous missense mutation c.1933 G> A p.Asp645Asn (GAA exon 14). Left Ventricular Mass Index (LVMI) at baseline was 171 g/m(2) (Z-score = 4.3) and decreased to normal values since the 3-month follow-up. A muscle biopsy performed at 18 months after the start of therapy, showed only a low degree of muscle involvement. To our knowledge, this is the longest ERT treatment follow-up in a symptomatic neonatal patient with Pompe disease.

Authors+Show Affiliations

Division of Metabolic Diseases, Department of Paediatrics, University Hospital Padua, Via Giustiniani 3, 35128 Padua, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20830524

Citation

Del Rizzo, Monica, et al. "Long-term Follow-up Results in Enzyme Replacement Therapy for Pompe Disease: a Case Report." Journal of Inherited Metabolic Disease, vol. 33 Suppl 3, 2010, pp. S389-93.
Del Rizzo M, Fanin M, Cerutti A, et al. Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. J Inherit Metab Dis. 2010;33 Suppl 3:S389-93.
Del Rizzo, M., Fanin, M., Cerutti, A., Cazzorla, C., Milanesi, O., Nascimbeni, A. C., ... Burlina, A. B. (2010). Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. Journal of Inherited Metabolic Disease, 33 Suppl 3, pp. S389-93. doi:10.1007/s10545-010-9195-2.
Del Rizzo M, et al. Long-term Follow-up Results in Enzyme Replacement Therapy for Pompe Disease: a Case Report. J Inherit Metab Dis. 2010;33 Suppl 3:S389-93. PubMed PMID: 20830524.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Long-term follow-up results in enzyme replacement therapy for Pompe disease: a case report. AU - Del Rizzo,Monica, AU - Fanin,Marina, AU - Cerutti,Alessia, AU - Cazzorla,Chiara, AU - Milanesi,Ornella, AU - Nascimbeni,Anna Chiara, AU - Angelini,Corrado, AU - Giordano,Laura, AU - Bordugo,Andrea, AU - Burlina,Alberto B, Y1 - 2010/09/10/ PY - 2010/06/14/received PY - 2010/08/23/accepted PY - 2010/08/11/revised PY - 2010/9/11/entrez PY - 2010/9/11/pubmed PY - 2014/4/9/medline SP - S389 EP - 93 JF - Journal of inherited metabolic disease JO - J. Inherit. Metab. Dis. VL - 33 Suppl 3 N2 - Pompe disease (PD) is a metabolic myopathy caused by a deficiency of acid-alpha glucosidase (GAA), a lysosomal enzyme that cleaves glycogen. The classic infantile-onset form is characterised by severe hypotonia and cardiomyopathy. Untreated patients usually die within the first year of life due to cardiorespiratory failure. Several studies involving patients with infantile-onset PD have shown that enzyme replacement therapy (ERT) with alglucosidase alfa, recombinant human GAA (rhGAA), significantly prolongs survival, decreases cardiomegaly, and improves cardiac function and conduction abnormalities. However, the efficacy on motor, cognitive and social milestones appears to be more related to the condition of the patient before the start of treatment. To date, the sample of early diagnosed and treated patients is small and the length of follow-up is still limited. We report the results of a long-term follow-up of one patient presenting severe bradycardia and cardiomyopathy at birth, diagnosed in the third day of life and successfully treated by ERT. Serum muscle enzymes at diagnosis were AST 200 U/L, ALT 99 U/L and CPK 731 U/L (n.v. 0-295); the molecular study identified the homozygous missense mutation c.1933 G> A p.Asp645Asn (GAA exon 14). Left Ventricular Mass Index (LVMI) at baseline was 171 g/m(2) (Z-score = 4.3) and decreased to normal values since the 3-month follow-up. A muscle biopsy performed at 18 months after the start of therapy, showed only a low degree of muscle involvement. To our knowledge, this is the longest ERT treatment follow-up in a symptomatic neonatal patient with Pompe disease. SN - 1573-2665 UR - https://www.unboundmedicine.com/medline/citation/20830524/Long_term_follow_up_results_in_enzyme_replacement_therapy_for_Pompe_disease:_a_case_report_ L2 - https://doi.org/10.1007/s10545-010-9195-2 DB - PRIME DP - Unbound Medicine ER -