0000000000241902
AUTHOR
Frans W. Verheijen
Methods for a prompt and reliable laboratory diagnosis of Pompe disease : report from an international consensus meeting
Pompe disease is an autosomal recessive disorder of glycogen metabolism caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA). It presents at any age, with variable rates of progression ranging from a rapidly progressive course, often fatal by one-year of age, to a more slowly, but nevertheless relentlessly progressive course, resulting in significant morbidity and premature mortality. In infants, early initiation of enzyme replacement therapy is needed to gain the maximum therapeutic benefit, underscoring the need for early diagnosis. Several new methods for measuring GAA activity have been developed. The Pompe Disease Diagnostic Working Group met to review data gener…
Biallelic variants in LARS2 and KARS cause deafness and (ovario)leukodystrophy
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