Adult Form of Pompe Disease

作者：Vohanka Stanislav

来源：Ceska a Slovenska Neurologie a Neurochirurgie, 2014, 77(6): 667-674.

DOI：10.14735/amcsnn2014667

• Pompe disease
• alpha glucosidase
• lysosomal storage diseases
• limb-girdle muscle weakness

Pompe disease (glycogen storage disease type 2, acid maltase deficiency) is inherited autosomal recessive metabolic disorder caused by deficiency of acid alpha-glucosidase and resulting in lysosomal glycogen storage in various tissues, mainly heart and skeletal muscle. Continuous spectrum of phenotypes from the rapidly progressive infantile form to the slowly progressive late onset form of the disease can be observed. Classical infantile form of the disease manifests soon after birth due to absent or nearly absent activity of the key enzyme. Typical manifestations include failure to thrive, muscle weakness, cardiomegaly, and respiratory failure. Before the era of substitution therapy, the majority of children died within the first year of life. Partial enzyme deficiency (severe mutation on one allele and milder on the second) leads to the less severe phenotype with manifestation in child- or adulthood. Time span is from the first to the sixth decade of life. Leading symptoms include slowly progressing limb girdle and trunk muscle weakness with significant involvement of respiratory muscles. There is no cardiomegaly. Suspicion of Pompe disease is confirmed in three steps. The first involves screening with the Dried Blood Spot test. Testing of the activity of alfa glucosidase in leukocytes is used to confirm the disease. Mutation analysis is important to assess the correlation between genotype and phenotype and to identify familial carriers.

• 出版日期2014