Ali DURSUN, Ayşegül TOKATLI, Hatice Serap SİVRİ, Yılmaz YILDIZ, Turgay COŞKUN

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder

Yıldız Y, Dursun A, Tokatlı A, Coşkun T, Sivri HS. Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder. Turk J Pediatr 2016; 58: 94-96.Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause

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1. Blau N, Burton BK, Thöny B, et al. Phenylketonuria and BH4 Deficiencies (1st ed). Bremen: UNI-MED Verlag AG; 2010.
2. Camp KM, Parisi MA, Acosta PB, et al. Phenylketonuria scientific review conference: state of the science and future research needs. Mol Genet Metab 2014; 112: 87-122.
3. Loeber JG. Neonatal screening in Europe; the situation in 2004. J Inherit Metab Dis 2007; 30: 430-438.
4. Anjema K, van Rijn M, Hofstede FC, et al. Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype. Orphanet J Rare Dis 2013; 8: 103-111.
5. Vockley J, Andersson HC, Antshel KM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 2014; 16:188-200.
6. Waisbren SE, Noel K, Fahrbach K, et al. Phenylalanine blood levels and clinical outcomes in phenylketonuria: a systematic literature review and meta-analysis. Mol Genet Metab 2007; 92: 63-70.
7. Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. Lancet 2010; 376: 1417-1427.
8. Liu X, Guo H, Dahal M, Shi B. Unusual presentation of two Chinese phenylketonuria sisters who were misdiagnosed for years. BMJ Case Rep 2013.
9. Spilioti M, Evangeliou AE, Tramma D, et al. Evidence for treatable inborn errors of metabolism in a cohort of 187 Greek patients with autism spectrum disorder (ASD). Front Hum Neurosci 2013; 7: 858-684.
10. Saal HM, Braddock SR, Bull MJ, et al. Maternal phenylketonuria. Pediatrics 2008; 122: 445-449.
11. Ozalp I, Coskun T, Tokatli A, et al. Newborn PKU screening in Turkey: at present and organization for future. Turk J Pediatr 2001; 43: 97-101.
12. Tezel B, Dilli D, Bolat H, et al. The development and organization of newborn screening programs in Turkey. J Clin Lab Anal 2014; 28: 63-69.
13. Narayanan D, Barski R, Henderson MJ, et al. Delayed diagnosis of phenylketonuria - a case report of two siblings. Ann Clin Biochem 2014; 51: 406-408.