L-alanine supplementation in late infantile glycogen storage disease type II

Olaf A. Bodamer; Dorothea Haas; Monique M. Hermans; Arnold J. Reuser; Georg F. Hoffmann

doi:10.1016/S0887-8994(02)00413-7

L-alanine supplementation in late infantile glycogen storage disease type II

Olaf A. Bodamer, Dorothea Haas, Monique M. Hermans, Arnold J. Reuser, Georg F. Hoffmann

Human Genetics

Research output: Contribution to journal › Article › peer-review

28 Scopus citations

Abstract

We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II.

Original language	English (US)
Pages (from-to)	145-146
Number of pages	2
Journal	Pediatric Neurology
Volume	27
Issue number	2
DOIs	https://doi.org/10.1016/S0887-8994(02)00413-7
State	Published - Aug 2002

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Neurology
Developmental Neuroscience
Clinical Neurology

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10.1016/S0887-8994(02)00413-7

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abstract = "We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II.",

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AU - Hermans, Monique M.

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AU - Hoffmann, Georg F.

PY - 2002/8

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AB - We report a male with late infantile glycogen storage disease type II (Pompe's disease) who presented at 12 months of age with muscular hypotonia and developmental delay. Oral supplementation with L-alanine has been administered for 5 years. Progression of skeletal myopathy was slow, and cardiomyopathy resolved almost completely. L-alanine may be a valuable supplement for infants with glycogen storage disease type II.

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L-alanine supplementation in late infantile glycogen storage disease type II

Abstract

ASJC Scopus subject areas

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