Glycogen storage diseases
Evidence-based neurology checklist on glycogen storage diseases: Glycogen storage diseases Adult polyglucosan body disease: glycogen branching enzyme (GBE) GSD type I: von Gierke disease: glucose-6-phosphatase deficiency GSD type II: Pompe disease: acid maltase deficiency GSD type III: Cori’s…
Glycogen storage diseases
- Adult polyglucosan body disease: glycogen branching enzyme (GBE)
- GSD type I: von Gierke disease: glucose-6-phosphatase deficiency
- GSD type II: Pompe disease: acid maltase deficiency
- GSD type III: Cori’s disease: debrancher enzyme deficiency
- GSD type V: McArdle’s disease: glycogen phosphorylase deficiency
- GSD type VII: Tarui disease: phosphofructokinase deficiency
- Myoadenylate deaminase (MAD) deficiency
- Also see Neurochecklists “Glycogen Storage Diseases”
References
- Sedel F. Inborn errors of metabolism in adult neurology. Rev Neurol (Paris) 2013; 169(Suppl 1):S63-S69.
- Gray RGF, Preece MA, Green SH, Whitehouse W, Winer J, Green A. Inborn errors of metabolism as a cause of neurological disease in adults: an approach to investigation. JNNP 2000; 69:5-12.
- Christopher R, Sankaran BP. An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist. Ann Indian Acad Neurol 2008; 11:68-81.
- Martins AM. Inborn errors of metabolism: a clinical overview. Sao Paulo Med J 1999; 117:251-265.
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