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Muscle biochemical and pathological diagnosis in Pompe disease by Yoshihiko Saito; Kimitoshi Nakamura; Tokiko Fukuda; Hideo Sugie; Shinichiro Hayashi; Satoru Noguchi; Ichizo Nishino is a Medicine article available to read on EtoBox.

What is Muscle biochemical and pathological diagnosis in Pompe disease about?

## Background and objectives Pompe disease is reportedly less prevalent in Japan than in neighbouring countries, raising a possibility that some patients may be overlooked. Therefore, all muscle biopsy samples received at our institute were screened for Pompe disease to determine the accuracy of the disease prevalence. ## Methods The acid α-glucosidase (GAA) activity was assayed using 10 μm frozen muscle sections from 2408 muscle biopsies received between July 2015 and January 2018. Genetic analysis was performed for samples with decreased activity. The number of myopathologically diagnosed patients was retrospectively assessed. ## Results The GAA activity was distributed similarly to previous results from dried blood spot screening. GAA activity measured using muscle sections corresponded to that measured using muscle blocks. Of 163 patients with GAA activity <3 nmol/hour/mg protein, 43 (26%) patients had homozygous pseudodeficiency alleles inGAA(p.G576S and p.E689K). In the retrospective analysis, the number of patients diagnosed with Pompe disease via muscle biopsies decreased to zero over time. ## Discussion Muscle pathology is an accurate method to diagnose Pompe disease. It i

Who reads Muscle biochemical and pathological diagnosis in Pompe disease?

Author

Yoshihiko Saito; Kimitoshi Nakamura; Tokiko Fukuda; Hideo Sugie; Shinichiro Hayashi; Satoru Noguchi; Ichizo Nishino

Publisher

BMJ

Published

2022

Language

EN

Field

Medicine (Health Sciences)