Muscle Adenylate Deaminase Deficiency

Kar, Nirmal C.; Pearson, Carl M.

doi:10.1001/archneur.1981.00510050045005

Cited by 39 publications

(26 citation statements)

References 8 publications

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“…It is possible that the presence of these seemingly unrelated diseases in 1 patient represents a chance occurrence identifed because of an appropriate evaluation of progressive myopathy in a patient with PSS. However, the presence of 1 case of PSS and AMPDA deficiency reported among 6 cases of AMPDA deficiency by Kar and Pearson (10) and our case suggest the possibility of an association between these 2 diseases. The difficult clinical task of differentiating…”

supporting

confidence: 46%

Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis

Gertler

Jacobs

1984

Arthritis & Rheumatism

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supporting

confidence: 46%

Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis

Gertler

Jacobs

1984

Arthritis & Rheumatism

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“…Family members of some MADA-deficient subjects have been shown to have lowered levels of enzyme activity as well, suggesting the presence of a carrier state (14). MADA deficiency has been described in association with many other disorders, including periodic paralysis, influenza-like illness, Kugelberg-Welander syndrome, amyotrophic lateral sclerosis, spinal muscular atrophy, facial and limb girdle myopathy, poly myositis, dermatomyositis, systemic lupus erythematosus, systemic sclerosis, diabetes, hyperthyroidism, and gout (3,4,7,15,16). However, many patients with this deficiency have no other rheumatic or neuromuscular disorder that could explain their symptoms.…”

Section: Discussionmentioning

confidence: 99%

“…A deficiency of MADA activity, perhaps the most common cause of metabolic myopathy , has been reported in association with skeletal muscle dysfunction (2). Although the clinical picture is variable, most MADA-deficient subjects experience easy fatigue, cramps, and postexertional myalgias (2)(3)(4). The precise relationship between the enzyme deficiency and these symptoms is not clear.…”

mentioning

confidence: 99%

Myoadenylate deaminase deficiency and forearm ischemic exercise testing

Valen

Nakayama

Veum

et al. 1987

Arthritis & Rheumatism

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Myoadenylate deaminase (MADA) deficiency has been associated with symptoms of postexertional aches, cramps, weakness, and skeletal muscle dysfunction. Measurement of plasma lactate and ammonia concentrations after forearm ischemic exercise has been suggested as a screening test for this disorder. We performed forearm ischemic tests on 3 patients with histochemically defined MADA deficiency and 13 healthy control subjects, in a standardized fashion. Our results demonstrated that subject effort and/or performance during the exercise portion of testing is a critical variable. In addition to lactate and ammonia, plasma purine compounds (adenosine, inosine, and hypoxanthine) were measured. The finding of decreased purine release after exercise in MADA-deficient patients compared with that in normal individuals increases the specificity of the test and supports the hypothesis that disordered purine metabolism occurs in MADA deficiency.Myoadenylate deaminase (MADA) (EC 3.5.4.6) catalyzes the deamination of AMP to IMP in skeletal muscle and plays an important role in the purine

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“…Következésképp a TT genotípus AMPD-defi cientiával, míg a CT genotípus alacsonyabb AMPD-enzimaktivitással jár a vad típushoz képest [35]. Az irodalmi adatok alapján a mutáns allélt hordozók fogékonyabbak az izomgörcsökre, fájdalomra és izomfáradásra [36]. Rubio és munkatársai megfigyelték, hogy a T allél gyakorisága kisebb volt az álta-luk vizsgált kerékpárosok és futók körében, mint a nem sportoló kontrollpopulációban [37].…”

Section: Az áLlóképességet éS Az Izomerőt Befolyásoló További Génváltunclassified

Review of genetic research and testing in sport

Marosi

Horvath²,

Nagy

et al. 2012

Orvosi Hetilap

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Az utóbbi években megerősítést nyert a fi zikai teljesítmény jelentős mértékű genetikai meghatározottsága. Emellett a sportoláshoz köthető sérülésekre és betegségekre való genetikai hajlamról is egyre nagyobb ismeretanyag áll rendelkezésünkre. A teljesítményt befolyásoló génpolimorfi zmusok vizsgálata lehetőséget kínál a sportági kiválasz-tási rendszer fejlesztésére. A sportoló genetikai profi ljának ismerete a jövőben lehetővé teszi a személyre szabott edzésprogram kidolgozását és ezáltal a teljesítmény potenciális növelését. A genetikai tesztek a jövőben fontos szerepet játszhatnak a sérülések és a betegségek genetikai kockázati tényezőinek szűrésében is. Orv. Hetil., 2012, 153, 1247-1255. Kulcsszavak: sport, genetikai hajlam, sportteljesítmény, prevenció Review of genetic research and testing in sportThere is compelling evidence for a genetic contribution to physical performance. In addition, there is an advanced scientifi c knowledge on the predisposition to sports-related diseases and injuries. Genetic testing of performance related polymorphisms can serve as a new opportunity for developing the process of talent selection. Sport-related genetic information may also allow for individualization of the training and improve performance. Genetic testing may also play an important role in the pre-participation screening for injuries and disease risks. Orv. Hetil., 2012Hetil., , 153, 1247Hetil., -1255 Keywords: sport, genetic predisposition, sport performance, prevention (Beérkezett: 2012. május 10.; elfogadva: 2012. június 14.) Rövidítések ACE = angiotenzinkonvertáló enzim; ACTN3 = α-aktinin-3; ADBR2 = béta-adrenerg receptor-2; AMPD1 = AMP deamináz-1, ARVD = arrhythmogen jobb kamrai dysplasia; BAS-ES = The British Association for Sport and Exercise Sciences; BrS = Brugada-szindróma; CFS = Canada Fitness Survey; CPVT = katecholaminerg polimorf kamrai tachycardia; BDKRB2 = bradikininreceptor-B2; CKMM = izomspecifi kus kreatinkináz; GINA = Genetic Information Nondiscrimination Act; GWAS = Genom Wide Association Studies; HC = hypertrophiás cardiomyopathia; HERITAGE = Health, RIskfactors, exercise Training and Genetics; HIF1 = hipoxia indukálta faktor 1; LQTS = hosszú QT-szindróma; MMP3 = mátrix-metalloproteináz-3; MSTN = myostatin; NOS3 = nitrogén-oxidszintetáz-3; PEP = performance enhancing polymorphisms; PPARGC = peroxisome proliferator-activated receptor gamma coactivator 1; SCD = sudden cardiac death; TCN = tenascin-C; SQTS = rövid QT-szindróma; WADA = World Anti-Doping Agency Az örökítőanyagunk biztosítja az élethez szükséges genetikai információt. A humán DNS szekvenciája hordozza az emberi fajra jellemző tulajdonságokat és egy-

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Muscle Adenylate Deaminase Deficiency

Cited by 39 publications

References 8 publications

Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis

Myoadenylate deaminase deficiency in a patient with progressive systemic sclerosis

Myoadenylate deaminase deficiency and forearm ischemic exercise testing

Review of genetic research and testing in sport

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