Prenatal diagnosis for adenosine deaminase deficiency.
نویسندگان
چکیده
منابع مشابه
Prenatal diagnosis for adenosine deaminase deficiency.
Amniocentesis was performed in two successive pregnancies of the mother of a child with adenosine deaminase (ADA) deficient severe combined immunodeficiency. Assay of ADA in amniotic fluid fibroblasts showed the pregnancies to be normal and homozygous deficient, respectively. These findings were confirmed by the demonstration of a normal level of erythrocyte ADA in the cord blood of the healthy...
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 کاملCapillary electrophoresis in diagnosis and monitoring of adenosine deaminase deficiency.
BACKGROUND The diagnosis and monitoring of severe combined immunodeficiency disease (SCID) attributable to adenosine deaminase (ADA) deficiency requires measurements of ADA, purine nucleoside phosphorylase (PNP), and S-adenosyl-L-homocysteine-hydrolase (SAHH) activity and of deoxyadenosine metabolites. We developed capillary electrophoresis (CE) methods for the detection of key diagnostic metab...
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 کامل[Gene therapy for adenosine deaminase deficiency].
Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a fatal recessive disorder caused by mutations in the gene encoding ADA. Based on the first clinical trial of two young girls with ADA-deficient SCID by recombinant retrovirus-mediated gene transfer at the National Institute of Health of USA, we prepared to treat a four-year-old boy with ADA-deficient SCID wh...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1981
ISSN: 1468-6244
DOI: 10.1136/jmg.18.2.154