Phenylketonuria in Sohag: A Preliminary Study

Morad, Amira; Saleem, Tahia; Ahmad, Nagwa; Abuhamdah, Sawsan

doi:10.21608/smj.2019.41366

Phenylketonuria in Sohag: A Preliminary Study

Document Type : Original Article

Authors

¹ Department of Medical Biochemistry, Faculty of Medicine, Sohag University.

² Department of Medical Biochemistry, Faculty of Medicine, Assiut University.

³ Debartment of Medical Biochemistry, Faculty of Medicine, Sohag University.

⁴ Department of Biopharmaceutics and Clinical Pharmacy, Faculty of Pharmacy, University of Jordan.

10.21608/smj.2019.41366

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

Main Subjects

Biochemistry and Molecular Biology

References

Albers S, Marsden D, Quackenbush E, Stark AR, Levyand HL and Irons M. 2001. Detection of neonatal carnitine palmitoyltransferase II deficiency by expanded newborn screening with tandem mass spectrometry. Pediatrics, 107:1417.
Berry H K; Sutherland B, Guest G M and Warkany J. 1958. Simple method for detection of phenylketonuria. Journal of the American Medical Association, 167:18, 2189-2190.
Bhatt C Misraand Z and Goyel N. 2008. Detection of inherited metabolic diseases in children with mental handicap. Indian J Clinical Biochem., 23:1 10-16.
Blau N, Barnesand I and Dhondt JL.1996. International database of tetrahydrobiopterin deficiencies. J Inherited Metabolic Dis., 19:1 8-14.
Choudhuri T and Sengupta S. 2006. Inborn error of metabolism - An Indian perspective. Int J Human Genet, 6(1): 89-91.
Hanley W B, Linsao L, Davidson W and Moes CAF.1970. Malnutrition with early treatment of phenylketonuria. Pediatric Research, 4(4): 318-327.
Henry R J.1964. Clinical Chemistry: Principles and Techniques. New York, Harper and Row. p 183.
Imamura T, Okano Y, Shintaku H, Haseand Y and Isshiki G
.1999. Molecular characterization of 6-pyruvoyl-tetrahydropterin synthase deficiency in Japanese patients. J Human Genetics, 44(3): 163-168.
Kuhara T. 2007. Non-invasive human metabolome analysis for differential diagnosis of inborn errors of metabolism. J Chromatogr B Analyt Technol Biomed Life Sci. 855(1):42-50.
Kumta N B.2005. Inborn errors of metabolism (IEM) : An Indian perspective. Indian J Pediatrics, 72:4 325-332.
Lee HH, Mak CM, Lam CW, Yuen YP, Chan AO and Shek CC. 2011. Analysis of inborn errors of metabolism: disease spectrum for expanded newborn screening in Hong Kong. Chin Med J; 124: 983-989.
Oh H J, Park ES, Kang S, Jo I and Jung SC .2004. Long-term enzymatic and phenotypic correction in the phenylketonuria mouse model by adeno-associated virus vector-mediated gene transfer. Pediatric Research, 56 (2): 278-284.
Ponzone A, Blau N, Guardamagna O, Ferrero GB, Dianzaniand I and Endres W.1990. Progression of 6-pyruvoyl- tetrahydropterin synthase deficiency from a peripheral into a central phenotype. J Inherited Metabolic Dis., 13(3): 298-300.
Schulpis K H, Covanis A, Loumakou M, Frantzis N, Papandreou O, Divolli A, Missiou-Tsagaraki S, Kierat L and Blau N.1991. A case of 6-pyruvoyl-tetrahydropterin synthase deficiency after screening 1,500,000 newborns in Greece. J Inherited Metabolic Dis., 14(5): 845-846.
Tietz NW. 1995. Clinical Guide to Laboratory Tests. 3^rd ed. Philadelphia, W.B. Saunders Co.
Wuu K D, Hsiao KJ, Chen CH, Hsiao TS, Chang YC and Chu YK.1988. Screening for inherited metabolic diseases and congenital hypothyroidism in 4,744 mentally retarded school children in Taiwan. Jinrui Idengaku Zasshi. Japanese J Human Genetics, 33(1): 33-40.