Dietary treatment in adult-onset type II glycogenosis

J Inherit Metab Dis. 2006 Aug;29(4):590. doi: 10.1007/s10545-006-0144-z. Epub 2006 Jun 19.

Abstract

Eight patients with adult-onset type II glycogenosis (GSD II), all carrying the IVS1-13T<G mutation, were treated with high-protein isocaloric diet for 3 years. We evaluated the usefulness of this approach through the assessment of the skeletal muscles (by manual muscle testing, quantitative isokinetic exercise, and muscle MRI) and the respiratory function (by spirometry). Three patients with mild or moderate disease severity refused the diet and were still monitored for comparison: they showed clinical (2 patients) or clinicoradiological (1 patient) progression of muscle weakness, while respiratory function remained unchanged. Among the patients accepting the dietary treatment, muscle strength remained unchanged, as did the degree of fatty infiltration and atrophy as assessed by muscle MRI; respiratory function worsened in 2/5 patients with severe baseline respiratory dysfunction. High-protein diet may stabilize disease progression at the skeletal muscles, but does not produce significant clinical improvements; moreover, the usefulness of this approach in patients with severe respiratory disease seems questionable.

MeSH terms

  • Adult
  • Diet*
  • Dietary Proteins / administration & dosage*
  • Disease Progression
  • Female
  • Glycogen Storage Disease Type II / diet therapy*
  • Glycogen Storage Disease Type II / pathology
  • Glycogen Storage Disease Type II / physiopathology
  • Humans
  • Male
  • Middle Aged
  • Muscle Strength
  • Muscle, Skeletal / pathology
  • Respiration
  • Spirometry

Substances

  • Dietary Proteins