[AMP deaminase deficiency (myoadenylate deaminase). Disease or syndrome?].
Two recent publications have shown the advantage of understanding the deficit in AMP desaminase in rheumatology. On this subject, the authors report 4 cases of deficit in AMP desaminase. The first one includes a semiology made of pain, and stiffening, the second case is discovered in the course of a primary muscular disease. The third case is present during the first stage of a spinal cord compression. The fourth case is a muscular deficit accompanied with a histological picture of inflammation, considered initially as a chronic polymyositis, but explained secondarily as a pseudo-polymyositis form of facio-scapulo-humeral dystrophy. In this respect, the cases from the literature are divided into three groups: asymptomatic, infraclinical forms, forms occurring in the course of specific diseases (muscular diseases, spinal cord diseases, inflammations of the connective tissues, metabolic diseases), apparently isolated forms. In the latter, emerges a semiology made of pain, cramps, stiffening of the lower extremities occurring on exertion. However, the specificity of the symptoms remains to be discussed.
D000659:AMP Deaminase / Q000172:deficiency*; D000328:Adult; D000368:Aged; D001164:Arteriovenous Fistula / Q000150:complications; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000201:enzymology*; D009135:Muscular Diseases / Q000201:enzymology*; D009709:Nucleotide Deaminases / Q000172:deficiency*; D012021:Reflex, Abnormal / Q000201:enzymology; D013117:Spinal Cord Compression / Q000201:enzymology / Q000209:etiology
D009709:Nucleotide Deaminases; D000659:AMP Deaminase
Le déficit en AMP désaminase (myoadénylate désaminase). Maladie ou syndrome?