Phenylketonuria in sohag : a preliminary study
Joint Authors
Ahmad, Najwa S.
Salim, Tahiyah H.
Warikat, Ghalib A.
Abu Hamdah, Sawsan M. A.
Source
Jordan Journal of Biological Sciences
Issue
Vol. 6, Issue 3 (30 Sep. 2013), pp.243-245, 3 p.
Publisher
The Hashemite University Deanship of Academic Research and Graduate
Publication Date
2013-09-30
Country of Publication
Jordan
No. of Pages
3
Main Subjects
Topics
Abstract EN
Disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional.
The diagnosis of this disorder can be confirmed by analysis of urine components.
The present study aimed to assess the prevalence of PKU among children aged 6 months to 6 years in So hag governorate Egypt, its relationship to malnutrition and identifying families with higher predisposition to having children with inborn errors of metabolism.
One hundred children were selected from 18,000 patients seen in the pediatric neuropsychiatry clinic of So hag University hospital over three years, between May 2008-May 2011.
They were presented with clinical symptoms suggestive of probable preliminary diagnosis of PKU.
Proper clinical and laboratory investigations, including ferric chloride test in urine, total protein and albumin in serum, were screened to confirm the diagnosis.
PKU was diagnosed in two children cases.
The diagnosed cases were suffering from mild malnutrition represented by low levels of serum albumin and total protein comparable to cases of Marasmus and kwashiorkor or other deficiencies like rickets.
Screening of the newborn with special emphasis on PKU is highly recommended before discharge from the nursery for children delivered in the hospital or on first visit to the clinic for children delivered at home.
Early detection would help prevent serious and permanent neurological impairment.
American Psychological Association (APA)
Warikat, Ghalib A.& Salim, Tahiyah H.& Ahmad, Najwa S.& Abu Hamdah, Sawsan M. A.. 2013. Phenylketonuria in sohag : a preliminary study. Jordan Journal of Biological Sciences،Vol. 6, no. 3, pp.243-245.
https://search.emarefa.net/detail/BIM-340328
Modern Language Association (MLA)
Warikat, Ghalib A.…[et al.]. Phenylketonuria in sohag : a preliminary study. Jordan Journal of Biological Sciences Vol. 6, no. 3 (Sep. 2013), pp.243-245.
https://search.emarefa.net/detail/BIM-340328
American Medical Association (AMA)
Warikat, Ghalib A.& Salim, Tahiyah H.& Ahmad, Najwa S.& Abu Hamdah, Sawsan M. A.. Phenylketonuria in sohag : a preliminary study. Jordan Journal of Biological Sciences. 2013. Vol. 6, no. 3, pp.243-245.
https://search.emarefa.net/detail/BIM-340328
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 245
Record ID
BIM-340328