𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The “muscular variant” of Pompe disease: Clinical, biochemical and histologic characteristics

✍ Scribed by Temple, Julia K. ;Dunn, David W. ;Blitzer, Miriam G. ;Shapira, Emmanuel ;Opitz, John M. ;Reynolds, James F.

Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
543 KB
Volume
21
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a 2-yr-old boy with progressive muscular weakness and respiratory failure. There was no clinical evidence of heart muscle involvement. Autopsy showed marked intralysosomal glycogen deposition in skeletal muscle and liver with no histological evidence of glycogen deposition in cardiac muscle. The activity of the lysosomal enzyme alpha-1,4-glucosidase was deficient in skin fibroblasts, skeletal muscle, cardiac muscle, and liver; however, the enzymatic activity in peripheral blood leukocytes was in the low normal range. The child's mother had normal enzymatic activity in leukocytes but heterozygote levels in skin fibroblasts.

📜 SIMILAR VOLUMES

Update of the Pompe disease mutation dat
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating
✍ Marian Kroos; Robert J. Pomponio; Laura van Vliet; Rachel E. Palmer; Michael Phi 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 206 KB

Communicated by Elizabeth F. Neufeld Pompe disease was named after the Dutch pathologist Dr JC Pompe who reported about a deceased infant with idiopathic hypertrophy of the heart. The clinical findings were failure to thrive, generalized muscle weakness and cardio-respiratory failure. The key pathol