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Reproductive Biomedicine
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Volume 17, Issue 10 (October 2019)
IJRM 2019, 17(10): 763-770 |
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Żółkowska J, Hozyasz K. Low increase in phenylalanine tolerance during pregnancies in PKU woman with high prepregnancy BMI and postconceptional initiation of diet: A case report. IJRM 2019; 17 (10) :763-770
URL: http://ijrm.ir/article-1-1699-en.html
URL: http://ijrm.ir/article-1-1699-en.html
1- PKU Polyclinic, Institute of Mother and Child, Warsaw, Poland.
2- Institute of Health Sciences, State School of Higher Education, Biała Podlaska, Poland. ,khozyasz@gmail.com
2- Institute of Health Sciences, State School of Higher Education, Biała Podlaska, Poland. ,
Abstract: (2186 Views)
Abstract
Background: Women with untreated phenylketonuria (PKU) are at an increased risk to have offspring with multiple abnormalities due to teratogenic effects of hyperphenylalaninaemia. Treatment goals include blood phenylalanine concentrations between 120 and 360 µmol/L, however, there are limited pieces of evidence for the practical management of pregnant PKU patient and prediction of phenylalanine tolerance changes during a course of pregnancy.
Case: We report the case of a mother with classical PKU (p.R408W/p.R408W) and the course of her two pregnancies with low phenylalanine tolerance increase (347mg and 227mg) despite the rewarding collaboration with a nutritionist.
Conclusion: This case report does not confirm the observation that a very low phenylalanine tolerance increase in pregnancy of PKU patient is a marker of coexisting PKU-affection in fetus.
Background: Women with untreated phenylketonuria (PKU) are at an increased risk to have offspring with multiple abnormalities due to teratogenic effects of hyperphenylalaninaemia. Treatment goals include blood phenylalanine concentrations between 120 and 360 µmol/L, however, there are limited pieces of evidence for the practical management of pregnant PKU patient and prediction of phenylalanine tolerance changes during a course of pregnancy.
Case: We report the case of a mother with classical PKU (p.R408W/p.R408W) and the course of her two pregnancies with low phenylalanine tolerance increase (347mg and 227mg) despite the rewarding collaboration with a nutritionist.
Conclusion: This case report does not confirm the observation that a very low phenylalanine tolerance increase in pregnancy of PKU patient is a marker of coexisting PKU-affection in fetus.
Type of Study: Case Report |
References
1. Morovatdar N, Badiee Aval S, Hosseini Yazdi SMR, Norouzi F, Mina T. The epidemiological and clinical study of phenylketonuria (PKU) patients in Khorasan, North-eastern Iran. Iranian Journal of Neonatology 2015; 6: 18-22
2. Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, et al. Phenylalanine hydroxylase deficiency: diagnosis and management guideline. Genet Med 2014; 16: 188-200. [DOI:10.1038/gim.2013.157] [PMID]
3. Van Wegberg AMJ, MacDonald A, Ahring K, Belanger-Quintana A, Blau N, Bosch AM, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment. Orphanet J Rare Dis 2017; 12: 162. [DOI:10.1186/s13023-017-0685-2] [PMID] [PMCID]
4. Resta R. Generation n+1: Projected numbers of babies born to women with PKU compared to babies with PKU in the United States in 2009. Am J Med Genet 2012; 158A: 1118-1123. [DOI:10.1002/ajmg.a.35312] [PMID]
5. Maillot F, Lilburn M, Baudin J, Morley DW, Lee PJ. Factors influencing outcomes in the offspring of mothers with phenylketonuria during pregnancy: the importance of variation in maternal blood phenylalanine. Am J Clin Nutr 2008; 88: 700-705. [DOI:10.1093/ajcn/88.3.700] [PMID]
6. Żółkowska J, Hozyasz KK, Nowacka M. Prevention of maternal phenylketonuria syndrome. Dietary management in the preconception period and during pregnancy. Pediatr Med Rodz 2018; 14: 47-53. [DOI:10.15557/PiMR.2018.0004]
7. Kermack AJ, Finn-Sell S, Cheong YC, Brook N, Eckert JJ, Macklon NS, et al. Amino acid composition of human uterine fluid: association with age, lifestyle and gynaecological pathology. Hum Reprod 2015; 30: 917-924. [DOI:10.1093/humrep/dev008] [PMID] [PMCID]
8. Kurzawińska G, Magiełda J, Romała A, Bartkowiak-Wieczorek J, Barlik M, Drews K, et al. Demographic factors determining folic acid supplementation in pregnant and childbearing age women. Ginekol Pol 2018; 89: 211-216. [DOI:10.5603/GP.a2018.0036] [PMID]
9. Karwowska P, Gryko W. Health 2020 and action plan for public health - new understanding of public health. Health Prob Civil 2017; 11: 5-9. [DOI:10.5114/hpc.2017.65523]
10. Kohlschütter B, Ellerbrok M, Merkel M, Tchirikov M, Zschocke J, Santer R, et al. Phenylalanine tolerance in three phenylketonuric women pregnant with fetuses of different genetic PKU status. J Inherit Metab Dis 2009; 32 (Suppl.): S1-S4. [DOI:10.1007/s10545-008-0910-1] [PMID]
11. Guldberg P1, Rey F, Zschocke J, Romano V, François B, Michiels L, et al. A european multicenter study of phenylalanine deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet 1998; 63: 71-79. [DOI:10.1086/301920] [PMID] [PMCID]
12. Sween LK, Althouse AD, Roberts JM. Early-pregnancy percent body fat in relations to preeclampsia risk in obese women. Am J Obstet Gynecol 2015; 212: 84. e1-e7. [DOI:10.1016/j.ajog.2014.07.055] [PMID]
13. MacLeod EL, Gleason ST, van Calcar SC, Ney DM. Reassessment of phenylalanine tolerance in adults with phenylketonuria is needed as body mass changes. Mol Genet Metab 2009; 98: 331-337. [DOI:10.1016/j.ymgme.2009.07.016] [PMID] [PMCID]
14. Delvalle JA, Greengard O. Phenylalanine hydroxylase and tyrosine aminotransferase in human fetal and adult liver. Pediatr Res 1977; 11: 2-5. [DOI:10.1203/00006450-197711010-00002] [PMID]
15. Hyánek J, Viletová H, Soukup J, Kobilková J, Kubik M, Kunová V. Changes in phenylalanine tolerance while monitoring the dietetic treatment of pregnant women suffering from hyperphenylalaninaemia. J Inherit Metab Dis 1988; 11: 427-428. [DOI:10.1007/BF01800434] [PMID]
16. Rohr FJ, Doherty LB, Waisbren SE, Bailey IV, Ampola MG, Benacerraf B, et al. New england maternal pku project: prospective study of untreated and treated pregnancies and their outcomes. J Pediatr 1987; 110: 391-398. [DOI:10.1016/S0022-3476(87)80500-0]
17. Thompson GN, Francis DE, Kirby DM, Compton R. Pregnancy in phenylketonuria: dietary treatment aimed at normalizing maternal plasma phenylalanine concentration. Arch Dis Child 1991; 66: 1346-1349. [DOI:10.1136/adc.66.11.1346] [PMID] [PMCID]
18. Żółkowska J, Hozyasz KK, Nowacka M. Singleton and twin pregnancies of PKU patients - individual variability of phenylalanine tolerance: Experience of a single treatment center (preliminary report). Dev Period Med 2017; 21: 344-360.
19. Acosta PB, Matalon K, Castiglioni L, Rohr FJ, Wenz E, Austin V, Azen C. Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations. Am J Clin Nutr 2001; 73: 792-796. [DOI:10.1093/ajcn/73.4.792] [PMID]
20. Duran GP, Rohr FJ, Slonim A, Güttler F, Levy HL. Necessity of complete intake of phenylalanine-free amino acid mixture for metabolic control of phenylketonuria. J Am Diet Assoc 1999; 99: 1559-1563. [DOI:10.1016/S0002-8223(99)00382-X]
21. Levy HL, Lobbregt D, Sansaricq C, Snyderman SE. Comparison of phenylketonuric and nonphenylketonuric sibs from untreated pregnancies in a mother with phenylketonuria. Am J Med Genet 1992; 44: 439-442. [DOI:10.1002/ajmg.1320440411] [PMID]
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