Abstract
Fenilketonüri otozomal resesif geçişli kalıtsal bir metabolik hastalıktır. Fenilalaninden kısıtlı diyet, hastalığın metabolik kontrolü için esastır. Gebelik sırasında annenin yüksek plazma fenilalanin düzeyleri teratojeniktir. Makalede maternal fenilketonüri sendromlu iki yenidoğan sunulmaktadır.
Keywords
References
- Jervis GA. Deficiency of phenylalanine oxidizing system. Proc Soc Exp Biol Med 1953;82:514–51.
- Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. Human phenylalanine hydroxylase mutations and hyperphenylala- ninemia phenotypes: A metanalysis of genotypephenotype corre- lations. Am J Hum Genet 1997;61:1309-17.
- Kızılelma A, Şirin H, Acıcan D, Baştürk S, Özbaş S, Dilmen U, Demirkol M. Türkiyede ulusal yenidoğan fenilketonüri taraması sonuçları. 19. Ulusal Neonatoloji Kongresi Kitabı 2011:27.
- Levy HL, Waisbren SE. PKU in adolescents: Rationale and psychosocial factors in diet continuation. Acta Pediatr 1994;117:92–7.
- Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2017; 4: 286-288
- Rouse B, Azen C. Effect of highmaternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: The importance of strict dietary control preconception and throughout pregnancy. J Pediatr 2004;144: 235-9.
- Widaman KF, Azen C. Relation of prenatal phenylalanine expo- sure to infant and childhood cognitive outcomes: Results from the International Maternal PKU Collaborative Study. Pediatrics 2003;112:1537-43.
- Moselely K, Skrabal J, Yano S, Koch R. Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies. ICAN Infant Child Adolesc Nutr 2009;1:262-6.
- Matalon R, Michals-Matalon K, Bhatia G, Burlina AB, Burlina AP, Braga C, et al. Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine. J Inherit Metab Dis 2007;30:153-8.
- Fox-Bacon C, McCamman S, Therou L, Moore W, Kipp DE. Maternal PKU and breastfeeding: Case report of identical twin mothers. Clin Pediatr (Phila) 1997;36:539-42.
- van Rijn M, Bekhof J, Dijkstra T, Smit PG, Moddermam P, van Spronsen FJ. A different approach to breast-feeding of the infant with phenylketonuria. Eur J Pediatr 2003;162:323-6.
Abstract
Pheniylketonuria is an inherited autosomal recessive metabolic disorder. A phenylalanine-restricted diet is the essential for metabolic control of the disease. Elevated maternal plasma phenylalanine concentrations during pregnancy are teratogenic. Two newborns with maternal phenylketonuria are reported in this article
Keywords
References
- Jervis GA. Deficiency of phenylalanine oxidizing system. Proc Soc Exp Biol Med 1953;82:514–51.
- Kayaalp E, Treacy E, Waters PJ, Byck S, Nowacki P, Scriver CR. Human phenylalanine hydroxylase mutations and hyperphenylala- ninemia phenotypes: A metanalysis of genotypephenotype corre- lations. Am J Hum Genet 1997;61:1309-17.
- Kızılelma A, Şirin H, Acıcan D, Baştürk S, Özbaş S, Dilmen U, Demirkol M. Türkiyede ulusal yenidoğan fenilketonüri taraması sonuçları. 19. Ulusal Neonatoloji Kongresi Kitabı 2011:27.
- Levy HL, Waisbren SE. PKU in adolescents: Rationale and psychosocial factors in diet continuation. Acta Pediatr 1994;117:92–7.
- Türkiye Çocuk Hast Derg/Turkish J Pediatr Dis / 2017; 4: 286-288
- Rouse B, Azen C. Effect of highmaternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: The importance of strict dietary control preconception and throughout pregnancy. J Pediatr 2004;144: 235-9.
- Widaman KF, Azen C. Relation of prenatal phenylalanine expo- sure to infant and childhood cognitive outcomes: Results from the International Maternal PKU Collaborative Study. Pediatrics 2003;112:1537-43.
- Moselely K, Skrabal J, Yano S, Koch R. Sapropterin dihydrochloride (6R-BH4) and maternal phenylketonuria two case studies. ICAN Infant Child Adolesc Nutr 2009;1:262-6.
- Matalon R, Michals-Matalon K, Bhatia G, Burlina AB, Burlina AP, Braga C, et al. Double blind placebo control trial of large neutral amino acids in treatment of PKU: Effect on blood phenylalanine. J Inherit Metab Dis 2007;30:153-8.
- Fox-Bacon C, McCamman S, Therou L, Moore W, Kipp DE. Maternal PKU and breastfeeding: Case report of identical twin mothers. Clin Pediatr (Phila) 1997;36:539-42.
- van Rijn M, Bekhof J, Dijkstra T, Smit PG, Moddermam P, van Spronsen FJ. A different approach to breast-feeding of the infant with phenylketonuria. Eur J Pediatr 2003;162:323-6.
Details
| Other ID | JA62SE47TA |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | December 1, 2017 |
| Submission Date | December 1, 2017 |
| Published in Issue | Year 2017 Volume: 11 Issue: 4 |
The publication language of Turkish Journal of Pediatric Disease is English.
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