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Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype

J M H Anneser1, D E Pongratz, T Podskarbi

  • 1Department of Neurology and Friedrich-Baur-Institute, Ludwig-Maximilians-University, Munich, Germany. Johanna.Anneser@nro.med.uni-muenchen.de

Neurology
|January 26, 2005
PubMed

Insights

Late-onset Pompe disease, a lysosomal storage disorder, presented unusually in a 30-year-old woman with vascular issues. Genetic analysis identified two new mutations in the acid alpha-glucosidase gene.

Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Glycogenosis type II, also known as Pompe disease, is a rare autosomal recessive lysosomal storage disorder.
  • It results from a deficiency in the enzyme acid alpha-glucosidase (acid maltase).
  • Pompe disease exhibits significant clinical and genetic heterogeneity.

Observation:

  • A 30-year-old woman presented with late-onset Pompe disease.
  • Her clinical presentation included vascular affection that mimicked atherosclerotic angiopathy typically seen in the elderly.
  • This atypical presentation highlights the diverse manifestations of Pompe disease.

Findings:

  • Genetic analysis of the patient revealed two previously unidentified mutations in the acid alpha-glucosidase gene.
  • The specific mutations identified were Ala237Val and Gly293Arg.
  • These novel mutations provide new insights into the genetic basis of Pompe disease.

Implications:

  • The findings expand the known spectrum of mutations associated with Pompe disease.
  • Understanding these novel mutations may aid in developing more targeted diagnostic and therapeutic strategies.
  • This case underscores the importance of considering Pompe disease in patients with unexplained vascular conditions, even in younger individuals.

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