Glycogen storage disorder type II

external

• Synonyms

  • Glycogen storage disease type II
  • Alpha-glucosidase deficiency
  • GAA deficiency
  • Pompe disease
  • Lysosomal glucosidase deficiency
  • Acid maltase deficiency
  • AMD
  • Cardiomegalia glycogenica diffusa
  • Type II glycogenosis
  • Acid alpha-1`4 glucosidase deficiency

• Effects

  • Failure to thrive
  • Neonatal hypotonia
  • Proximal myopathy
  • Macroglossia50.0%
  • Neuromuscular hypoventilation
  • Familial dilated cardiomyopathy

• Parents

  • Glycogen storage disorder

• Description

  • "Infantile presents at 6 months to 2 yrs Late-onset presents up to age 60 Chromosome 17q"