Research & Literature

Committee opinion no: 636: Management of women with phenylketonuria.

Obstetrics and gynecology 2015; (125(6)):1548-1550 doi:10.1097/01.AOG.0000466372.63522.f0.

Practice Bulletin No. 153: Nausea and Vomiting of Pregnancy.

Obstetrics and gynecology 2015; (126(3)):e12-e24 doi:10.1097/AOG.0000000000001048.

The management of pregnancy and delivery in 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.

Pipitone A, Raval DB, Duis J, et al.

American journal of medical genetics. Part A 2016; (170(6)):1600-2 doi:10.1002/ajmg.a.37620.

Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach.

Singh RH, Cunningham AC, Mofidi S, et al.

Molecular genetics and metabolism 2016; (118(2)):72-83.

The Effects of Breastfeeding in Infants With Phenylketonuria.

Kose E, Aksoy B, Kuyum P, et al.

Journal of pediatric nursing 2018; (38()):27-32 doi:10.1016/j.pedn.2017.10.009.

Pegvaliase: a novel treatment option for adults with phenylketonuria.

Mahan KC, Gandhi MA, Anand S

Current medical research and opinion 2019; (35(4)):647-651 doi:10.1080/03007995.2018.1528215.

RNA-Seq analysis in an avian model of maternal phenylketonuria.

Watson JN, Seagraves NJ

Molecular genetics and metabolism 2019; (126(1)):23-29 doi:10.1016/j.ymgme.2018.09.003.

Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.

Yıldız Y, Sivri HS

European journal of pediatrics 2019; (178(7)):1005-1011 doi:10.1007/s00431-019-03387-8.

Pegvaliase: Immunological profile and recommendations for the clinical management of hypersensitivity reactions in patients with phenylketonuria treated with this enzyme substitution therapy.

Hausmann O, Daha M, Longo N, et al.

Molecular genetics and metabolism 2019; (128(1-2)):84-91 doi:10.1016/j.ymgme.2019.05.006.

Nutritional and Metabolic Characteristics of UK Adult Phenylketonuria Patients with Varying Dietary Adherence.

Green B, Browne R, Firman S, et al.

Nutrients 2019; (11(10)) doi:10.3390/nu11102459.

SOMANZ position paper on the management of nausea and vomiting in pregnancy and hyperemesis gravidarum.

Lowe SA, Armstrong G, Beech A, et al.

The Australian & New Zealand journal of obstetrics & gynaecology 2020; (60(1)):34-43 doi:10.1111/ajo.13084.

First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child.

Nyuzuki H, Yamazaki T, Saito M, Ohtake A

Molecular genetics and metabolism reports 2019; (21()):100526 doi:10.1016/j.ymgmr.2019.100526.

Low increase in phenylalanine tolerance during pregnancies in PKU woman with high prepregnancy BMI and postconceptional initiation of diet: A case report.

Żółkowska J, Hozyasz K, Ph D

International journal of reproductive biomedicine 2019; (17(10)):763-770 doi:10.18502/ijrm.v17i10.5302.

Discontinuation of Pegvaliase therapy during maternal PKU pregnancy and postnatal breastfeeding: A case report.

Rohr F, Kritzer A, Harding CO, et al.

Molecular genetics and metabolism reports 2020; (22()):100555 doi:10.1016/j.ymgmr.2019.100555.

Creating a Multidisciplinary Pregnancy Heart Team.

Easter SR, Valente AM, Economy KE

Current treatment options in cardiovascular medicine 2020; (22(1)):3 doi:10.1007/s11936-020-0800-x.

Successful desensitization of Pegvaliase (Palynziq®) in a patient with phenylketonuria.

Patrawala M, Kuruvilla M, Li H

Molecular genetics and metabolism reports 2020; (23()):100575 doi:10.1016/j.ymgmr.2020.100575.

The first study of successful pregnancies in Chinese patients with Phenylketonuria.

Wang L, Ye F, Zou H, et al.

BMC pregnancy and childbirth 2020; (20(1)):253 doi:10.1186/s12884-020-02941-9.

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.

Caletti MT, Bettocchi I, Baronio F, et al.

Nutrition, metabolism, and cardiovascular diseases : NMCD 2020; (30(6)):977-983 doi:10.1016/j.numecd.2020.02.003.

The Genetic Landscape and Epidemiology of Phenylketonuria.

Hillert A, Anikster Y, Belanger-Quintana A, et al.

American journal of human genetics 2020; (107(2)):234-250 doi:10.1016/j.ajhg.2020.06.006.

Phenylalanine Effects on Brain Function in Adult Phenylketonuria.

Pilotto A, Zipser CM, Leks E, et al.

Neurology 2021; (96(3)):e399-e411 doi:10.1212/WNL.0000000000011088.

Protein Substitutes in PKU; Their Historical Evolution.

Daly A, Evans S, Pinto A, et al.

Nutrients 2021; (13(2)) doi:10.3390/nu13020484.

Continuation of pegvaliase treatment during pregnancy: A case report.

Boyer M, Skaar J, Sowa M, et al.

Molecular genetics and metabolism reports 2021; (26()):100713 doi:10.1016/j.ymgmr.2021.100713.

Long-term cognitive and psychosocial outcomes in adults with phenylketonuria.

Aitkenhead L, Krishna G, Ellerton C, et al.

Journal of inherited metabolic disease 2021; (44(6)):1353-1368 doi:10.1002/jimd.12413.

Sapropterin for phenylketonuria: A Japanese post-marketing surveillance study.

Tamura M, Seki S, Kakurai Y, et al.

Pediatrics international : official journal of the Japan Pediatric Society 2022; (64(1)):e14939 doi:10.1111/ped.14939.

Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.

Rohde C, Thiele AG, Baerwald C, et al.

Orphanet journal of rare diseases 2021; (16(1)):477 doi:10.1186/s13023-021-02108-5.

Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids.

Kim J, Lee S, Lee J, et al.

Molecular genetics and metabolism 2022; (136(2)):132-144 doi:10.1016/j.ymgme.2022.04.005.

Genetic etiology and clinical challenges of phenylketonuria.

Elhawary NA, AlJahdali IA, Abumansour IS, et al.

Human genomics 2022; (16(1)):22 doi:10.1186/s40246-022-00398-9.

Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.

Grohmann-Held K, Burgard P, Baerwald CGO, et al.

Journal of inherited metabolic disease 2022; (45(6)):1070-1081 doi:10.1002/jimd.12544.

Breastfeeding in Phenylketonuria: Changing Modalities, Changing Perspectives.

Zuvadelli J, Paci S, Salvatici E, et al.

Nutrients 2022; (14(19)) doi:10.3390/nu14194138.

Reinstitution of pegvaliase therapy during lactation.

Rohr F, Wessel A, Harding CO, et al.

Molecular genetics and metabolism reports 2022; (33()):100938 doi:10.1016/j.ymgmr.2022.100938.

The impact of phenylalanine levels during pregnancy on birth weight and later development in children born to women with phenylketonuria.

Nielsen MR, Jørgensen C, Ahring K, et al.

Journal of inherited metabolic disease 2023; (46(4)):586-594 doi:10.1002/jimd.12600.

Phenylketonuria and the brain.

Rovelli V, Longo N

Molecular genetics and metabolism 2023; (139(1)):107583 doi:10.1016/j.ymgme.2023.107583.

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).

Adams AD, Fiesco-Roa MÓ, Wong L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2023; (25(9)):100358 doi:10.1016/j.gim.2022.12.005.

Classical phenylketonuria presenting as maternal PKU syndrome in the offspring of an intellectually normal woman.

Alghamdi MA, O'Donnell-Luria A, Almontashiri NA, et al.

JIMD reports 2023; (64(5)):312-316 doi:10.1002/jmd2.12384.

Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females.

Bier C, Dickey K, Bibb B, et al.

Molecular genetics and metabolism 2024; (141(3)):108152 doi:10.1016/j.ymgme.2024.108152.

Efficacy and safety of sapropterin before and during pregnancy: Final analysis of the Kuvan® Adult Maternal Paediatric European Registry (KAMPER) maternal and Phenylketonuria Developmental Outcomes and Safety (PKUDOS) PKU-MOMs sub-registries.

Feillet F, Ficicioglu C, Lagler FB, et al.

Journal of inherited metabolic disease 2024; (47(4)):636-650 doi:10.1002/jimd.12724.

Benefits of a prolonged-release amino acid mixture in four pregnant women with phenylketonuria.

Sestito S, Brodosi L, Ferraro S, et al.

Nutrition and health 2025; (31(2)):777-788 doi:10.1177/02601060241248522.

Transcriptome Profiling of Phenylalanine-Treated Human Neuronal Model: Spotlight on Neurite Impairment and Synaptic Connectivity.

Stankovic S, Lazic A, Parezanovic M, et al.

International journal of molecular sciences 2024; (25(18)) doi:10.3390/ijms251810019.

Nutrition in phenylketonuria.

Talebi S, Eshraghi P

Clinical nutrition ESPEN 2024; (64()):307-313 doi:10.1016/j.clnesp.2024.09.032.

Genotype-Phenotype Correlation in a Large Cohort of Eastern Sicilian Patients Affected by Phenylketonuria: Newborn Screening Program, Clinical Features, and Follow-Up.

Consentino MC, La Spina L, Meli C, et al.

Nutrients 2025; (17(3)) doi:10.3390/nu17030379.

Current Insights into Nutritional Management of Phenylketonuria: An Update for Children and Adolescents.

Anton-Păduraru DT, Trofin F, Chis A, et al.

Children (Basel, Switzerland) 2025; (12(2)) doi:10.3390/children12020199.

Maternal Phenylketonuria: Consequences of Dietary Non-Adherence and Gaps in Preconception Care-A Case Report.

Donarska J, Szablewska AW, Wierzba J

Journal of clinical medicine 2025; (14(4)) doi:10.3390/jcm14041102.

Maternal Phenylketonuria and Offspring Outcome: A Retrospective Study with a Systematic Review of the Literature.

Leone G, Meli C, Falsaperla R, et al.

Nutrients 2025; (17(4)) doi:10.3390/nu17040678.

Positive Impact of Breastfeeding on Nutritional Status and Metabolic Control in Infants with PKU: A Retrospective Study.

López-Mejía L, Guillén-López S, Vela-Amieva M, et al.

Nutrients 2025; (17(17)) doi:10.3390/nu17172851.

Successful Management of Two Consecutive Pregnancies With Maternal-Fetal Phenylketonuria: Lessons From Clinical Practice.

Lundkvist P, Malmberg KB, Lindström L, Kindmark A

JIMD reports 2026; (67(1)):e70054 doi:10.1002/jmd2.70054.