Clinical and Para clinical characteristics of non-classic Phenylketonuria
Iranian Journal of Child Neurology,
Vol. 15 No. 3 (2021),
19 June 2021
Phenylketonuria (PKU) is one of the most common inherited metabolic diseases, classified as classic and non-classic forms.2% of children with PKU develop a severe and progressive neurologic disease called non classic (malignant) PKU. We aimed to demonstrate the clinical features and laboratory findings and the diagnostic and therapeutic properties of non-classic PKU patients referred to a tertiary level referral center of children in Tehran.
Material and Method
In this study, we evaluate background information such as gender and age, clinical manifestations, laboratory findings, and response rates to conventional treatment of patients with non-classic PKU who referred to Mofid Children's' Hospital through neonatal screening.
Twenty patients with diagnosis of non-classic PKU were included. The mean age of them was 6.00 ± 2.81 years ranging from 2 to 12 years, and 45.0% were male. In patients with late diagnosis, the most common presentations were motor developmental delay (15.0%), skin and cutaneous manifestations (15.0%), seizure (5.0%), and restlessness (5.0%). An overall response to treatment was 85.0%. Factors that predict good response to treatment were female gender, higher neopterin level, and lower age at diagnosis and management.
In conclusion, about half of patients with non-classic PKU remain asymptomatic, which is due to early diagnosis via neonatal screening. Also, higher age at diagnosis and treatment, besides low neopterin levels, may be useful as prognostic factors.
- non-classic PKU
How to Cite
Al-Gazali L, Hamamy H, Al-Arrayad S. Genetic disorders in the Arab world. Bmj. 2006;333(7573):831-4.
Senemar S, Ganjekarimi H, Fathzadeh M, Tarami B, Bazrgar M. Epidemiological and clinical study of Phenylketonuria (PKU) disease in the National Screening Program of Neonates, Fars province, Southern Iran. Iranian Journal of Public Health. 2009:58-64.
Sanderson S, Green A, Preece M, Burton H. The incidence of inherited metabolic disorders in the West Midlands, UK. Archives of disease in childhood. 2006;91(11):896-9.
Habib A, Fallahzadeh MH, Kazeroni HR, Ganjkarimi AH. Incidence of phenylketonuria in Southern Iran. Iranian Journal of Medical Sciences. 2010;35(2):137-9.
Blau N, Thöny B, Cotton RGH, Hyland K. Disorders of Tetrahydrobiopterin and Related Biogenic Amines. In: Valle D, Antonarakis S, Ballabio A, Beaudet A, Mitchell GA, editors. The Online Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill Education; 2019.
Chandra SR, Christopher R, Daryappa MM, Devaraj R. Phenylketonuria: Our experience in nine years at a tertiary-level referral institute. Journal of pediatric neurosciences. 2018;13(1):62.
Pitt JJ. Newborn screening. Clin Biochem Rev. 2010;31(2):57-68.
Koochmeshgi J, Bagheri A, Hosseini-Mazinani SM. Incidence of phenylketonuria in Iran estimated from consanguineous marriages. J Inherit Metab Dis. 2002;25(1):80-1.
Eshraghi P, Abaskhanian A, Mohammadhasani A. Characteristics of patients with phenylketonuria in Mazandaran Province, northern, Iran. Caspian Journal of Internal Medicine. 2010;1(2):72-4.
Morovatdar N, Badiee Aval S, Hosseini Yazdi SMR, Norouzi F, Mina T. Epidemiology and clinical study of phenylketonuria (PKU) patients in Khorasan Province; Norteast Iran. Iranian Journal of Neonatology IJN. 2015;6(1):18-22.
Fisher A, Boruah R, Mayne PD, Monavari AA, Crushell E, Knerr I. GP226 Tetrahydrobiopterin disorders in ireland: a case series of 7 patients. BMJ Publishing Group Ltd; 2019.
Dayasiri KC, Suraweera N, Nawarathne D, Senanayake UE, Dayanath B, Jasinge E, et al. GTP-Cyclohydrolase I deficiency presenting as malignant hyperphenylalaninemia, recurrent hyperthermia and progressive neurological dysfunction in a South Asian child - a case report. BMC Pediatr. 2019;19(1):199.
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria. The Lancet. 2010;376(9750):1417-27.
MacDonald A, Asplin D. Phenylketonuria: practical dietary management. The journal of family health care. 2006;16(3):83-5.
Zimmermann M, Jacobs P, Fingerhut R, Torresani T, Thöny B, Blau N, et al. Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism. 2012;106(3):264-8.
- Abstract Viewed: 373 times
- pdf Downloaded: 0 times