0000000000241915
AUTHOR
Marcus Deschauer
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…
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Pompe disease is a rare, autosomal-recessive disorder which results from a defect in the lysosomal enzyme acid alpha-glucosidase (GAA). The onset of this disease is highly variable, with infantile types being the most severe. Traditionally, lymphocytes, fibroblasts or muscle biopsies were necessary for enzyme activity measurement, because these materials do not express maltase-glucoamylase (MGA) that interferes with the assay. Recently, acarbose was found to inhibit MGA activity selectively, so that dried blood became accessible for GAA assessment.To evaluate the diagnostic efficacy of GAA measurement in dried blood specimens (DBSs) in comparison with lymphocytes. If DBSs provided reliable …
Pain in adult patients with Pompe disease
article i nfo Background: Pompe disease is a rare hereditary metabolic myopathy caused by a deficiency of acid-α-glucosidase. We investigatedthe presence and severity of painand its interference with dailyactivities in a large group of adults with Pompe disease, who we compared with an age-matched control group. Methods: Data were collected in a cross-sectional survey in Germany and The Netherlands. Pain was assessed using the short-form brief pain inventory (BPI). Patients also completed the Short Form-36 item (SF-36v2), the Hospital Anxiety and Depression Scale (HADS) and the Rotterdam Handicap Scale (RHS). Results: Forty-five percent of the 124 adult Pompe patients reported having had pa…
Das Deutsche Netzwerk für mitochondriale Erkrankungen (mitoNET)
Zusammenfassung Das mitoNET wurde als interdisziplinäres, deutschlandweites Netzwerk mit dem Ziel konzipiert, eine Verbesserung der Patientenversorgung auf dem Gebiet der mitochondrialen Erkrankungen zu erreichen. Das horizontale klinische Netzwerk des mitoNET umfasst 8 neurologische und 13 pädiatrische Kliniken, die für die Patientenrekrutierung, deren Phänotypisierung und die Erfassung des natürlichen Verlaufs im Rahmen von jährlichen Kontrolluntersuchungen zuständig sind. Die Speicherung der erhobenen Daten erfolgt in einer eigens entwickelten webbasierten Registerdatenbank. Das Netzwerk betreibt 2 Biobanken zur Asservierung von DNA, RNA, Plasma sowie von diagnostisch gewonnenen Fibro- u…