myoadenylate deaminase deficiency

myoadenylate deaminase deficiency
myo·ad·en·yl·ate de·am·i·nase de·fi·cien·cy (mi″o-adґən-əl-āt de-amґĭ-nās) a mild autosomal recessive disorder caused by mutation in the AMPD1 gene (locus: 1p21-p13), which encodes the muscle isoform of AMP deaminase, characterized by fatigue, cramps, and myalgia after exercise.

Medical dictionary. 2011.

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  • Myoadenylate deaminase deficiency — Infobox Disease Name = PAGENAME Caption = DiseasesDB = ICD10 = ICD9 = ICDO = OMIM = 102770 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Myoadenylate deaminase deficiency (MADD) is a recessive genetic metabolic disorder that affects… …   Wikipedia

  • Adenosine Monophosphate Deaminase Deficiency type 1 — Classification and external resources Adenosine monophosphate OMIM 102770 …   Wikipedia

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  • AMP deaminase — An enzyme hydrolyzing adenylic acid to inosinic acid and NH3. A deficiency of A. in muscles can lead to excess fatigue following exercise. SYN: adenylic acid deaminase. * * * AMP de·am·i·nase (de amґĭ nās) [EC 3.5.4.6] an enzyme of the… …   Medical dictionary

  • List of diseases (M) — A list of diseases in the English wikipedia.DiseasesTOC MaMac* Mac Ardle disease * Mac Dermot Patton Williams syndrome * Mac Dermot Winter syndromeMaci Macr* Macias Flores Garcia Cruz Rivera syndrome * Mackay Shek Carr syndrome * Macleod Fraser… …   Wikipedia

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  • Myoadenylatdesaminase-Mangel — Der Myoadenylatdesaminase Mangel (MAD Mangel, Myoadenylate Deaminase Deficiency, MADD) ist der häufigste erbliche Stoffwechseldefekt der Skelettmuskulatur, dessen klinische Bedeutung seit der Erstbeschreibung 1978 umstritten ist.… …   Deutsch Wikipedia

  • MADD — is an abbreviation for: *Mothers Against Drunk Driving *Myoadenylate deaminase deficiency A metabolic disorder *Multiple acyl CoA dehydrogenation deficiency another name for the genetic disorder Glutaric acidemia type 2 …   Wikipedia

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