Genetic Predictors of Adenosine Monophosphate Deaminase Deficiency
نویسندگان
چکیده
منابع مشابه
Genetic Predictors of Adenosine Monophosphate Deaminase Deficiency
In the majority of the population, during high intensity exercise, Adenosine Monohosphate Deaminase (AMPD) Converts Adenosine Monophosphate (AMP) to Inosine Monophosphate (IMP), with the liberation of ammonia in the process. The AMPD reaction displaces the adenylate kinase equilibrium in the direction of ATP formation during exercise, providing additional energy and preventing a large increase ...
متن کاملAdenosine monophosphate deaminase deficiency
Keywords Disease name and synonyms AMP deaminase AMP deaminase deficiency Diagnosis criteria-definition Differential diagnosis Prevalence Clinical description Management Etiology Diagnostic methods Unresolved questions References Abstract There are two types of adenosine monophosphate deaminase deficiency. Myoadenylate deaminase deficiency is an inherited disorder of muscular energy metabolism ...
متن کاملEffects of Adenosine Deaminase on Cyclic Adenosine Monophosphate
In fat cells isolated from the parametrial adipose tissue of rats, the addition of purified adenosine deaminase increased lipolysis and cyclic adenosine 3’: 5’-monophosphate (cyclic AMP) accumulation. Adenosine deaminase markedly potentiated cyclic AMP accumulation due to norepinephrine. The increase in cyclic AMP due to adenosine deaminase was as rapid as that of theophylline with near maximal...
متن کاملGenetic and biochemical consequences of adenosine deaminase deficiency in humans.
Adenosine deaminase deficiency accounts for approximately 15-20% of severe combined immunodeficiency in humans. The gene for adenosine deaminase is located on chromosome 20q12-q13.11 and codes for an aminohydrolase that catalyzes the deamination of adenosine and deoxyadenosine to inosine and deoxyinosine, respectively. Absence of the enzyme causes a build-up of the substrates in addition to exc...
متن کاملAdenosine deaminase deficiency in adults.
Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic, immunologic, and genetic findings in two ADA-deficient adults with distinct phenotypes. Patient no. 1 (39 years of age) had combined immunodeficiency. She had frequent infections, lymphopenia, and recurrent hepatitis as a child but did relatively well in her second and ...
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ژورنال
عنوان ژورنال: Journal of Sports Medicine & Doping Studies
سال: 2013
ISSN: 2161-0673,2161-0673
DOI: 10.4172/2161-0673.1000124