Screening for some inborn errors of amino acid metabolism which impair mental function
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 2, Issue 2 (30 Nov. 2001), pp.71-91, 21 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2001-11-30
Country of Publication
Egypt
No. of Pages
21
Main Subjects
Abstract EN
-Newborn screening aims at the earliest possible recognition of the disorders in order to intervene for prevention of mental retardation.
Selective screening program is important to detect the probands and their high risk relatives for prevention and therapy.
Our general screening program included 2000 infants screened by paper chromatography for plasma samples.
There were only one case with transient neonatal tyrosinemia (0.05%) and one case with generalized aminoacidemia (0.05%).
As regards the selective screening program, among the 450 cases of mental retardation (MR) examined, 280 cases were suspected of having in born errors of amino acid metabolism by specific criteria taken as markers, e.g.
convulsions and/or progressive neuro mental deterioration, speech defect and/or deafness, MR with no acquired or chromosomal etiology and organic brain damage of a obscure etiology.
We used paper chromatography and screening tests e.g.
ferric chloride test and nitroprusside test for urine and plasmas samples.
Among the 51 cases (11.32%) with confirmed positive inborn errors of amino acid metabolism, 40cases (78%) had phenylketonuria (PKU), 4 cases (7.84%) with generalized aminoaciduria, 2 cases (3.92%) with non ketotic hyperglycinemia, 2 cases (3.92%) with hyperprolinemia, 2 cases (3.92%) with histidinemia and one case (1.96%) with homocystinuria.
American Psychological Association (APA)
Shawqi, Rabah M.& Riyad, Muhammad S. al-Din& Uthman, Huda M.& Baha, Nermine M.. 2001. Screening for some inborn errors of amino acid metabolism which impair mental function. The Egyptian Journal of Medical Human Genetics،Vol. 2, no. 2, pp.71-91.
https://search.emarefa.net/detail/BIM-392913
Modern Language Association (MLA)
Shawqi, Rabah M.…[et al.]. Screening for some inborn errors of amino acid metabolism which impair mental function. The Egyptian Journal of Medical Human Genetics Vol. 2, no. 2 (Nov. 2001), pp.71-91.
https://search.emarefa.net/detail/BIM-392913
American Medical Association (AMA)
Shawqi, Rabah M.& Riyad, Muhammad S. al-Din& Uthman, Huda M.& Baha, Nermine M.. Screening for some inborn errors of amino acid metabolism which impair mental function. The Egyptian Journal of Medical Human Genetics. 2001. Vol. 2, no. 2, pp.71-91.
https://search.emarefa.net/detail/BIM-392913
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 90-91
Record ID
BIM-392913