Literature DB >> 12213618

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

Olaf A Bodamer1, Dorothea Haas, Monique M Hermans, Arnold J Reuser, Georg F Hoffmann.   

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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Year:  2002        PMID： 12213618     DOI： 10.1016/s0887-8994(02)00413-7

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN： 0887-8994            Impact factor:   3.372


  8 in total

1.  Seven cases of Pompe disease from Greece.

Authors:  M Kroos; P Manta; I Mavridou; F Muntoni; D Halley; R Van der Helm; D Zaifeiriou; A Van der Ploeg; A Reuser; H Michelakakis
Journal:  J Inherit Metab Dis       Date:  2006-08       Impact factor: 4.982

2.  Molecular diagnosis of German patients with late-onset glycogen storage disease type II.

Authors:  P R Joshi; D Gläser; S Schmidt; M Vorgerd; M Winterholler; K Eger; S Zierz; M Deschauer
Journal:  J Inherit Metab Dis       Date:  2008-07-10       Impact factor: 4.982

3.  Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.

Authors:  Sueli M Oba-Shinjo; Roseli da Silva; Fernanda G Andrade; Rachel E Palmer; Robert J Pomponio; Kristina M Ciociola; Mary S Carvalho; Paulo S Gutierrez; Gilda Porta; Carlo D Marrone; Verônica Munoz; Anderson K Grzesiuk; Juan C Llerena; Célia R Berditchevsky; Claudia Sobreira; Dafne Horovitz; Thamine P Hatem; Elizabeth R C Frota; Rogerio Pecchini; João Aris Kouyoumdjian; Lineu Werneck; Veronica M Amado; José S Camelo; Robert J Mattaliano; Suely K N Marie
Journal:  J Neurol       Date:  2009-07-09       Impact factor: 4.849

Review 4.  Anaplerotic diet therapy in inherited metabolic disease: therapeutic potential.

Authors:  Charles R Roe; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2006 Apr-Jun       Impact factor: 4.982

Review 5.  The effect of amino acids on the bladder cycle: a concise review.

Authors:  Özer Ural Çakıcı; Sibel Dinçer
Journal:  Amino Acids       Date:  2021-12-01       Impact factor: 3.520

6.  Variable clinical features and genotype-phenotype correlations in 18 patients with late-onset Pompe disease.

Authors:  Jousef Alandy-Dy; Marie Wencel; Kathy Hall; Julie Simon; Yanjun Chen; Erik Valenti; Jade Yang; Deeksha Bali; Anita Lakatos; Namita Goyal; Tahseen Mozaffar; Virginia Kimonis
Journal:  Ann Transl Med       Date:  2019-07

7.  Pompe disease diagnosis and management guideline.

Authors:  Priya S Kishnani; Robert D Steiner; Deeksha Bali; Kenneth Berger; Barry J Byrne; Laura E Case; Laura Case; John F Crowley; Steven Downs; R Rodney Howell; Richard M Kravitz; Joanne Mackey; Deborah Marsden; Anna Maria Martins; David S Millington; Marc Nicolino; Gwen O'Grady; Marc C Patterson; David M Rapoport; Alfred Slonim; Carolyn T Spencer; Cynthia J Tifft; Michael S Watson
Journal:  Genet Med       Date:  2006-05       Impact factor: 8.822

8.  L-alanine supplementation in Pompe disease (IOPD): a potential therapeutic implementation for patients on ERT? A case report.

Authors:  Valentina Rovelli; Juri Zuvadelli; Marta Piotto; Andrea Scopari; Alice Re Dionigi; Vittoria Ercoli; Sabrina Paci; Graziella Cefalo; Elisabetta Salvatici; Giuseppe Banderali
Journal:  Ital J Pediatr       Date:  2022-03-28       Impact factor: 2.638
  8 in total

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