Genetic heterogeneity in partial adenosine 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 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 ...
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 کاملNeutropenia in patients with adenosine deaminase deficiency
Background Adenosine deaminase (ADA) deficiency is a disorder where the accumulation of purine metabolites, which are particularly toxic to lymphocytes, can lead to severe, life threatening infections. In addition, ADA deficiency also affects other tissues. Few reports describe the presence of neutropenia in these patients, primarily in older patients after hematopoietic stem cell transplantati...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Clinical Investigation
سال: 1983
ISSN: 0021-9738
DOI: 10.1172/jci110944