Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies

✍ Scribed by Rudolf Mercelis; Jean-Jacques Martin; Thierry Barsy; Georges Berghe

• Book ID: 104718200
• Publisher: Springer
• Year: 1987
• Tongue: English
• Weight: 715 KB
• Volume: 234
• Category: Article
• ISSN: 0340-5354
• DOI: 10.1007/bf00314082

✦ Synopsis

A histochemical assay was routinely performed of myoadenylate deaminase (MAD) in muscle biopsy specimens. MAD was absent in 13 cases, i.e. 2.9% of the specimens. In 10 cases the deficiency was confirmed biochemically. The diagnoses in the 13 patients were: polyneuropathy (n = 5), infantile spinal muscular atrophy (n = 3), congenital myopathy with type 2 fibre atrophy, facioscapulohumeral myopathy, polymyositis, myotonic dystrophy and hyperornithinaemia with gyrate atrophy of the retina. In contrast, 35 unrelated patients presenting with exercise-related muscle cramps or pains showed normal histochemical MAD activity. The biopsy specimens in all of these patients were essentially normal and in none of them was the diagnosis of a neuromuscular disease made. The results failed to confirm the association of MAD deficiency with aches, cramps and pains or exertional myalgia.