caa a22 4500 467932824 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0238-7 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0238-7 The effect of L -alanine therapy in a patient with adult onset glycogen storage disease type II [Elektronische Daten] [H. Mundy, J. Williams, A. Cousins, P. Lee] Summary: Adult-onset glycogen storage disease type II (GSD II) (McKusick 232300) is a progressive disabling myopathy. At present there is no treatment of proven clinical efficacy. Enzyme replacement therapy may in the future provide benefit but it will be costly and is not yet freely available. L-Alanine, a simple and relatively cheap therapy, has been shown to reduce protein degradation in GSD II patients but has not previously been assessed for clinical benefit in a controlled study. In this study L-alanine was assessed in a double blind, placebo-controlled, crossover n = 1 study. Assessments consisted of spirometry, cardiopulmonary exercise testing, quality of life measurements, biochemical markers and assessment by the criterion 4-component model of body composition. Alanine therapy was associated with a 15% gain in total body protein. However, the patient showed no functional improvement and reported feeling worse after treatment. Further controlled studies in a small group may be warranted, but not widespread use of this therapy. SSIEM and Springer, 2006 Mundy H. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut Williams J. MRC Childhood Nutrition Research Centre, Institute of Child Health, Guilford Street, London, UK aut Cousins A. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut Lee P. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 226-229 0141-8955 29:1<226 2006 29 10545 https://doi.org/10.1007/s10545-006-0238-7 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0238-7 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Mundy H. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut NATIONALLICENCE 700 1- Williams J. MRC Childhood Nutrition Research Centre, Institute of Child Health, Guilford Street, London, UK aut NATIONALLICENCE 700 1- Cousins A. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut NATIONALLICENCE 700 1- Lee P. Charles Dent Metabolic Unit, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 226-229 0141-8955 29:1<226 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer