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Nosology of lysosomal glycogen storage diseases without in vitro acid maltase deficiency. Delineation of a neonatal form by Verloes, Alain; Massin, Martial; Lombet, Jacques; Grattagliano, Bettina; Soyeur, Daniel; Rigo, Jacques; Koulischer, Lucien; Van Hoof, François is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.

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We describe a boy with an early lethal hypertrophic vacuolar cardiomyopathy of neonatal onset. Abnormal intra-and extralysosomal glycogen storage disease was demonstrated in heart and skeletal muscles. Glycogen content was twice the normal in muscles and over 3-fold the normal in the heart. In this organ, over 50% of the intracellular space was occupied by glycogen and possibly oligosaccharides, as demonstrated by the quantitative morphometric analysis of electron micrographs. The activity of acid ␣-glucosidase was increased in the heart, skeletal muscles, and liver, but was normal in leukocytes. A review of the 11 previously published pedigrees of lysosomal glycogen storage disease with normal in vitro ␣-glucosidase activity allows the delineation of three clinical entities: juvenile and neonatal pseudo-Pompe diseases and partial Pompe disease. Partial Pompe disease, due to the tissuespecific absence of acid ␣-glucosidase, was observed in a single patient. The most common form is the late-onset pseudo-Pompe disease, which is characterized by severe cardiomyopathy and mild myopathy appearing in the second or third decade, prominent arrhythmia with Wolf-Parkinson-White syndrome, and

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Author

Verloes, Alain; Massin, Martial; Lombet, Jacques; Grattagliano, Bettina; Soyeur, Daniel; Rigo, Jacques; Koulischer, Lucien; Van Hoof, François

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); Wiley-Liss Inc; Wiley (ISSN 0148-7299)

Published

1997

Language

EN

Field

Biochemistry, Genetics and Molecular Biology (Life Sciences)