Growth assessment in children with phenylketonuria

Basma Adel IBRAHIM, Wasnaa Hadi ABDULLAH, Nabeeha Najatee AKRAM

Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (8) : 908-916.

PDF(618 KB)
PDF(618 KB)
Chinese Journal of Contemporary Pediatrics ›› 2025, Vol. 27 ›› Issue (8) : 908-916. DOI: 10.7499/j.issn.1008-8830.2501076
OVERSEAS PEDIATRIC RESEARCH

Growth assessment in children with phenylketonuria

Author information +
History +

Abstract

Objective To investigate the growth parameters of children with phenylketonuria and assess the impact of a phenylalanine-restricted diet on their physical development. Methods The study involved 39 children diagnosed with phenylketonuria through newborn screening at the Central Child Teaching Hospital, Baghdad, Iraq. Data were collected during scheduled monthly check-ups, including phenylalanine levels, diet compliance, and anthropometric measurements. The children were divided into two groups based on their phenylalanine levels during the 3-year follow-up period: well-controlled group (average phenylalanine level of less than 360 μmol/L, with no single reading exceeding 600 μmol/L; n=14) and poorly-controlled group (one or more phenylalanine readings above 600 μmol/L during the follow-up period; n=25). Results The mean height readings for all time points (at birth and 3, 6, 9, 12, 15, 18, 21, 24 and 36 months of age) were higher in the well-controlled group than the poorly-controlled group, however, only at 3 months of age the difference was statistically significant. Height Z-scores revealed a clearer pattern: although the poorly-controlled group had higher height Z-scores at birth (P=0.001), the well-controlled group showed significantly higher height Z-scores at 3, 6, 12, 15, 18, 24, and 36 months (P<0.05). The well-controlled group exhibited significantly higher mean weight measurements compared to the poorly-controlled group at 3, 6, 9, 15, 18 months and 21 months (P<0.05). From 6 to 36 months, the well-controlled group consistently had significantly higher weight Z-scores than the poorly-controlled group (P<0.05). The well-controlled group showed more favorable height and weight Z-score distributions at 36 months of age compared to the poorly-controlled group, but the differences were not statistically significant (P>0.05). Both groups had height and weight Z-scores within the normal range at 36 months of age. Conclusions The children with phenylketonuria who receive good dietary control show better improvements in growth parameters compared to those with poor dietary control, however, both groups maintain height and weight Z-scores within the normal range, indicating generally adequate physical development across the cohort.

Key words

Phenylketonuria / Phenylalanine / Growth / Diet / Child

Cite this article

Download Citations
Basma Adel IBRAHIM , Wasnaa Hadi ABDULLAH , Nabeeha Najatee AKRAM. Growth assessment in children with phenylketonuria[J]. Chinese Journal of Contemporary Pediatrics. 2025, 27(8): 908-916 https://doi.org/10.7499/j.issn.1008-8830.2501076

References

[1]
Elhawary NA, AlJahdali IA, Abumansour IS, et al. Genetic etiology and clinical challenges of phenylketonuria[J]. Hum Genomics, 2022, 16(1): 22. PMCID: PMC9295449. DOI: 10.1186/s40246-022-00398-9 .
[2]
van Wegberg AMJ, MacDonald A, Ahring K, et al. The complete European guidelines on phenylketonuria: diagnosis and treatment[J]. Orphanet J Rare Dis, 2017, 12(1): 162. PMCID: PMC5639803. DOI: 10.1186/s13023-017-0685-2 .
[3]
Trefz KF, Muntau AC, Kohlscheen KM, et al. Clinical burden of illness in patients with phenylketonuria (PKU) and associated comorbidities: a retrospective study of German health insurance claims data[J]. Orphanet J Rare Dis, 2019, 14(1): 181. PMCID: PMC6647060. DOI: 10.1186/s13023-019-1153-y .
[4]
Blau N, van Spronsen FJ, Levy HL. Phenylketonuria[J]. Lancet, 2010, 376(9750): 1417-1427. DOI: 10.1016/S0140-6736(10)60961-0 .
[5]
Mohammadzadeh Z, Sharifi L, Fatholahpour A, et al. The investigation of serum phenylalanine levels based on infant feeding method: a cross-sectional study of children less than two years old with phenylketonuria (PKU)[J]. Int Breastfeed J, 2024, 19(1): 12. PMCID: PMC10865657. DOI: 10.1186/s13006-024-00617-0 .
[6]
Evans S, Daly A, Wildgoose J, et al. Growth, protein and energy intake in children with PKU taking a weaning protein substitute in the first two years of life: a case-control study[J]. Nutrients, 2019, 11(3): 552. PMCID: PMC6471165. DOI: 10.3390/nu11030552 .
[7]
Ilgaz F, Pinto A, Gökmen-Özel H, et al. Long-term growth in phenylketonuria: a systematic review and meta-analysis[J]. Nutrients, 2019, 11(9): 2070. PMCID: PMC6769966. DOI: 10.3390/nu11092070 .
[8]
Aldámiz-Echevarría L, Bueno MA, Couce ML, et al. Anthropometric characteristics and nutrition in a cohort of PAH-deficient patients[J]. Clin Nutr, 2014, 33(4): 702-717. DOI: 10.1016/j.clnu.2013.09.011 .
[9]
Manti F, Caviglia S, Cazzorla C, et al. Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria[J]. Orphanet J Rare Dis, 2022, 17(1): 443. PMCID: PMC9769037. DOI: 10.1186/s13023-022-02488-2 .
[10]
Giovannini M, Verduci E, Salvatici E, et al. Phenylketonuria: nutritional advances and challenges[J]. Nutr Metab (Lond), 2012, 9(1): 7. PMCID: PMC3395819. DOI: 10.1186/1743-7075-9-7 .
[11]
Rocha JC, van Spronsen FJ, Almeida MF, et al. Early dietary treated patients with phenylketonuria can achieve normal growth and body composition[J]. Mol Genet Metab, 2013, 110 Suppl: S40-S43. DOI: 10.1016/j.ymgme.2013.10.009 .
[12]
Chou JH, Roumiantsev S, Singh R. PediTools electronic growth chart calculators: applications in clinical care, research, and quality improvement[J]. J Med Internet Res, 2020, 22(1): e16204. PMCID: PMC7058170. DOI: 10.2196/16204 .
[13]
Salih FT, Abdullah WH, Ibrahim BA, et al. Assessment of growth status in children and adolescents with type 1 diabetes mellitus in Baghdad: a case-control study[J]. J Pak Med Assoc, 2024, 74(10 (-8)): S48-S51. DOI: 10.47391/JPMA-BAGH-16-12 .
Supple
[14]
Shakiba M, Alaei M, Saneifard H, et al. Assessment of anthropometric indices in patients with phenylketonuria[J]. Iran J Child Neurol, 2020, 14(2): 27-39. PMCID: PMC7085128.
[15]
Thiele AG, Gausche R, Lindenberg C, et al. Growth and final height among children with phenylketonuria[J]. Pediatrics, 2017, 140(5): e20170015. DOI: 10.1542/peds.2017-0015 .
[16]
Huemer M, Huemer C, Möslinger D, et al. Growth and body composition in children with classical phenylketonuria: results in 34 patients and review of the literature[J]. J Inherit Metab Dis, 2007, 30(5): 694-699. DOI: 10.1007/s10545-007-0549-3 .
[17]
Weng HL, Yang FJ, Chen PR, et al. Dietary intake and nutritional status of patients with phenylketonuria in Taiwan[J]. Sci Rep, 2020, 10(1): 14537. PMCID: PMC7471922. DOI: 10.1038/s41598-020-71361-8 .
[18]
Tanaka NYY, Turcato MF, Nicoletti CF, et al. Effects of short-term calcium supplementation in children and adolescents with phenylketonuria[J]. J Clin Densitom, 2018, 21(1):48-53. DOI: 10.1016/j.jocd.2017.02.001 .
[19]
Ahmadzadeh M, Sohrab G, Alaei M, et al. Growth and nutritional status of phenylketonuric children and adolescents[J]. BMC Pediatr, 2022, 22(1): 664. PMCID: PMC9668698. DOI: 10.1186/s12887-022-03715-2 .
[20]
de Almeida BNF, Laufer JA, Mezzomo TR, et al. Nutritional and metabolic parameters of children and adolescents with phenylketonuria[J]. Clin Nutr ESPEN, 2020, 37: 44-49. DOI: 10.1016/j.clnesp.2020.03.024 .
[21]
Paterno G, Di Tullio V, Carella R, et al. Growth parameters and prevalence of obesity in PKU patients and peers: is this the right comparison?[J]. Pediatr Rep, 2024, 16(4): 892-901. PMCID: PMC11503312. DOI: 10.3390/pediatric16040076 .
[22]
Acosta PB, Yannicelli S, Singh R, et al. Nutrient intakes and physical growth of children with phenylketonuria undergoing nutrition therapy[J]. J Am Diet Assoc, 2003, 103(9): 1167-1173. DOI: 10.1016/S0002-8223(03)00983-0 .

Footnotes

All authors declare no conflicts of interest.

ACKNOWLEDGEMENTS

The authors thank our university, "Al Mustansiriyiah," for continuous support.We would like to express our sincere gratitude to Dr. Dawood Salman Abdoun, Consultant in Pediatrics and Pediatric Endocrinology at the Central Child Teaching Hospital of Pediatrics, for his valuable linguistic proofreading and language editing support.

PDF(618 KB)

Accesses

Citation

Detail

Sections
Recommended

/