Abstract
Adenosine monophosphate deaminase (AMPD) catalyzes the deamination of AMP to inosine monophosphate (IMP) with the subsequent liberation of ammonia. This reaction is part of the purine nucleotide cycle (Zöllner et al. 1993). Decreased activities of the muscle isoform of AMPD (myoadenylate deaminase, MAD) in man were first described in 1962 by Pennington from muscle biopsies of five patients with Duchenne-type muscular dystrophy. Two years later, reduced activities were found in a patient with periodic hypokalemic paralysis (Engel et al. 1964). Histochemical staining for AMPD was developed in 1978. Using this technique, five patients with muscle weakness or cramping were found whose muscle biopsies were normal except for a lack of MAD activity. MAD deficiency was therefore postulated as causing a metabolic myopathy with exercise-related symptoms (Fishbein et al. 1978).
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References
Engel AG, Potter CS, Rosevear JW(1964) Nucleotides and adenosine monophosphate deaminase activity of muscle in primary hypokalaemic paralysis. Nature (London) 202: 670–672
Fishbein WN (1985) Myoadenylate deaminase deficiency: inherited and acquired forms. Biochem Med 33: 158–169
Fishbein WN, Armbrustmacher VW, Griffin JL (1978) Myoadenylate deaminase deficiency: a new disease of muscle. Science 200: 545–548
Fishbein WN, Armbrustmacher VW, Griffin JL (1980) Skeletal muscle adenylate deaminase, adenylate kinase, and creatine kinase in myo-adenylate deaminase deficiency and malignant hyperthemia. Clin Res 28: 288A
Goebel HH, Bardosi A (1987) Myoadenylate deaminase deficiency. Klin Wochenschr 65: 1023–1033
Gross M, Combe C, Gresser U, Schuster H, Zöllner N (1992) Häufigkeit der für den primären Myoadenylatdeaminase-Mangel verantwortlichen Mutation C 34-T (Ginl2-Stop) in einer Bevölkerungsstichprobe. Klin Wochenschr 69 (Suppl XXIII): 96
Hayes DJ, Summers BA, Morgan-Hughes JA (1982) Myoadenylate deaminase deficiency of not ? Observations on two brothers with exercise-induced muscle pain. J Neurol Sei 53: 125–136
Heffner RR (1980) Myoadenylate deaminase deficiency. J Neuropathol Exp Neurol 39: 360
Joosten EMG, van Bennekom CA, Oerlemans FT J, de Bruyn, CHMM, Oei TL, Trijbels IMF (1982) Two clinically different cases of myoadenylate deaminase deficiency: an enzyme defect in search of a disease. J Clin Chem 20: 381
Kar NC, Pearson CM (1981) Muscle adenylate deaminase deficiency. Report of six new cases. Arch Neurol 38: 279–281
Kelemen J, Rice DR, Bradley WG, Munsat TL, DiMauro S, Hogan EL (1982) Familial myoadenylate deaminase deficiency and exertional myalgia, Neurology 32: 857–863
Lally EV, Friedman JH, Kaplan SR (1985) Progressive myaglias and poly arthralgias in a patient with myoadenylate deaminase deficiency. Arthritis Rheum 28: 1298–1302
Marquetant R, Desai NM, Sabina RL, Holmes EW(1987) Evidence for sequential expression of multiple AMP deaminase isoforms during skeletal muscle development. Proc Natl Acad Sci USA 84: 2345–2349.
Mercelis R, Martin JJ, de Barsy T, van de Berghe G (1987) Myoadenylate deaminase deficiency: absence of correlation with exercise intolerance in 452 muscle biopsies. J Neurol 234: 385–389
Mineo I, Holmes EW (1991) Exon recognition and nucleocytoplasmic partitioning determine AMPD1 alternative transcript production. Mol Cell Biol 11: 5356–5363
MorisakiT, Gross M, Morisaki H, Pongratz D, Zollner N, Holmes EW(1992) Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc Natl Acad Sci USA 89: 6457–6461
Morisaki T, Sabina RL, Holmes ES (1990) Adenylate deaminase. A multigene family in humans and rats. J Biol Chem 265: 11482–11486
Pennington RJ (1962) Some enzyme studies in muscular dystrophy. Proc A Clin Biochem 2: 17–18
Sabina RL (1992) The multigene family encoding AMP-deaminase deficiency in rats and humans (this volume)
Sabina RL, Swain JL, Holmes EW(1989) Myoadenylate deaminase deficiency. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds)The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1077–1184
Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual, 2nd edn. Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74: 5463–5467
Shumate J, Kaiser KK, Brooke MH, Carroll JE (1979) Myoadenylate deaminase deficiency: disease or normal variant? Neurology 29: 558
Trounce I, Byrne E, Marzuki S (1989) Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing. Lancet 1: 637–639
Youssoufian H, Kazazian HH, Phillips DG, Aronis S,Tsiftis G, Brown VA, Antonarakis SE (1986) Recurrent mutations in haemophilia A give evidence for CpG mutation hotspots. Nature 324: 380–382
Zollner N, Wagner DR, Gross M (1993) Clinical aspects and biochemical basis of myoadenylate deaminase deficiency: a clinician’s point of view (this volume)
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Gross, M. (1993). The Genetic Basis of Myoadenylate Deaminase Deficiency in Man. In: Gresser, U. (eds) Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-84962-6_18
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DOI: https://doi.org/10.1007/978-3-642-84962-6_18
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