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Metabolic Diseases of Muscle

  • Phosphorylase Deficiency (MPD or PYGM) (Also known as McArdle's Disease)
  • Acid Maltase Deficiency (AMD) (Also known as Pompe's Disease)
  • Phosphofructokinase Deficiency (PFKM) (Also known as Tarui's Disease)
  • Debrancher Enzyme Deficiency (DBD) (Also known as Cori's or Forbes' Disease)
  • Mitochondrial Myopathy (MITO)
  • Carnitine Deficiency (CD)
  • Carnitine Palmityl Transferase Deficiency (CPT)
  • Phosphoglycerate Kinase Deficiency (PGK)
  • Phosphoglycerate Mutase Deficiency (PGAM or PGAMM)
  • Lactate Dehydrogenase Deficiency (LDHA)
  • Myoadenylate Deaminase Deficiency (MAD)

Visit the MDA website for more information about neuromuscular diseases. This website link is provided for your convenience only. Barrow Neurological Institute does not necessarily endorse the views expressed or the facts presented on the site, nor is responsible for the content on the site in any way.