Phenylketonuria in Sohag: A Preliminary Study
Morad, A., Saleem, T., Ahmad, N., Abuhamdah, S. (2019). Phenylketonuria in Sohag: A Preliminary Study. EKB Journal Management System, 23(Issue 1), 110-115. doi: 10.21608/smj.2019.41366
Amira Morad; Tahia Saleem; Nagwa Ahmad; Sawsan Abuhamdah. "Phenylketonuria in Sohag: A Preliminary Study". EKB Journal Management System, 23, Issue 1, 2019, 110-115. doi: 10.21608/smj.2019.41366
Morad, A., Saleem, T., Ahmad, N., Abuhamdah, S. (2019). 'Phenylketonuria in Sohag: A Preliminary Study', EKB Journal Management System, 23(Issue 1), pp. 110-115. doi: 10.21608/smj.2019.41366
Morad, A., Saleem, T., Ahmad, N., Abuhamdah, S. Phenylketonuria in Sohag: A Preliminary Study. EKB Journal Management System, 2019; 23(Issue 1): 110-115. doi: 10.21608/smj.2019.41366

Phenylketonuria in Sohag: A Preliminary Study

Sohag Medical Journal
Article 21, Volume 23, Issue 1, January 2019, Page 110-115  XML PDF (138.85 K)
Document Type: Original Article
DOI: 10.21608/smj.2019.41366
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Authors
Amira Morad1; Tahia Saleem2; Nagwa Ahmad3; Sawsan Abuhamdah4
1Department of Medical Biochemistry, Faculty of Medicine, Sohag University.
2Department of Medical Biochemistry, Faculty of Medicine, Assiut University.
3Debartment of Medical Biochemistry, Faculty of Medicine, Sohag University.
4Department of Biopharmaceutics and Clinical Pharmacy, Faculty of Pharmacy, University of Jordan.
Abstract
Phenylketonuria (PKU) is one of the commonest inborn error of metabolism, it is an autosomal recessive metabolic genetic 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 Sohag 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 Sohag 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.
Keywords
Phenylketonuria (PKU); Inborn Errors of Metabolism (IEMs); Sohag Governorate; Egypt; Phenylalanine Hydroxylase; Neurological Impairment; Newborn Screening
Supplementary Files
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