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Summary
MYOADENYLATE DEAMINASE DEFICIENCY
MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO MYOPATHY-METABOLIC, MYOADENYLATE DEAMINASE DEFICIENCY
615511
OMIM = Online Medalian Inheritance of Men
45
1p13.2
  • ribose
rare
autosomal recessive
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, adulthood
onset, childhood
pain, muscle
rhabdomyolysis
laboratory finding
Creatine kinase 40.00400.00increasedserumChildhood
AMP-deaminase2.0015.00 % of normalmuscle
EMG abnormalities -
Myoglobin0.000.00 increasedurineno data
Literature
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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
Timson DThe structural and molecular biology of type III galactosemiaIUBMB Life58283-892006
dAcierno A,Facchiano A, Marabotti AGALT protein database: querying structural and functional features of GALT enzymeHum Mutat3591060-10672014
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