Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies.
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.
Mercelis
R
R
Department of Neurology, University Hospital, Antwerp, Belgium.
Martin
J J
JJ
de Barsy
T
T
Van den Berghe
G
G
D000659:AMP Deaminase / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002648:Child; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology* / Q000473:pathology; D009135:Muscular Diseases / Q000201:enzymology / Q000209:etiology* / Q000473:pathology; D009709:Nucleotide Deaminases / Q000172:deficiency*; D005082:Physical Exertion
D009709:Nucleotide Deaminases; D000659:AMP Deaminase