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Summary
MYOADENYLATE DEAMINASE DEFICIENCY
MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO MYOPATHY-METABOLIC, MYOADENYLATE DEAMINASE DEFICIENCY
102770
OMIM = Online Medalian Inheritance of Men
45
1p21-p13

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
  • ribose
rare autosomal dominant may be asymptomatic or associated with exercised related cramps and myalgias and theses symptoms may be secondary due to neuromuscular or rheumatological diseases
symptoms
brown colored urine
exercise intolerance
hypotonia
muscle cramps
no clinical signs or symptoms
onset, adolescent
onset, adult
onset, child
rhabdomyolysis
laboratory finding
Creatine kinase 40.00400.00increasedserum
AMP-deaminase2.0015.00 % of normalmuscle
EMG abnormalities -
Myoglobin0.000.00 increasedurineno data
Literature
Cavalier Let al.Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of familiesAm J Hum Genet622301-3101998
Guneral FBachmann CAge-Related Reference Values for Urinary Organic Acids in a Healthy Turkish Pediatric PopulationClin Chem406862-8681994
Copp RPet al.Localization of alpha-tocopherol transfer protein in the brains of patients with ataxia with vitamin E deficiency and other oxidative stress related neurodegenerative disordersBrain Res822080-871999
Lehnert WRuitenbeek WEthylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiencyJ Inh Met Dis160557-5591993