Phenylketonuria: Dietary and Therapeutic Challenges

Overview

Journal J Inherit Metab Dis

Publisher Wiley

Date 2007 Mar 10

PMID 17347911

Citations 20

Authors

M Giovannini

E Verduci

E Salvatici

L Fiori

E Riva

Affiliations

Soon will be listed here.

Abstract

PKU subjects need special attention in the definition of optimal supplementation of nutrients, which may be insufficient in relation to the type of diet and may otherwise manifest symptoms of deficit. In particular, it is necessary to pay great attention to the long-chain polyunsaturated fatty acid (LC-PUFA) levels in relation to correct development of the central nervous system. On the basis of numerous beneficial effects currently known, a permanent supplementation with LC-PUFAs, in particular with docosahexaenoic acid, should be considered. Moreover, new formulas, Phe-free peptides, and 'modulated' amino acid preparations might help in preventing nutritional deficiencies and imbalances, with the ultimate aim of improving growth. New strategies--such as supply of tetrahydrobiopterin--need to be optimized in terms of targets, patients and expected outcomes.

Citing Articles

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

Consentino M, La Spina L, Meli C, Messina M, Lo Bianco M, Sapuppo A Nutrients. 2025; 17(3).

PMID: 39940237 PMC: 11819930. DOI: 10.3390/nu17030379.

Protein substitutions as new-generation pharmanutrition approach to managing phenylketonuria.

Keskin F, Sahin T, Capasso R, Agagunduz D Clin Exp Pediatr. 2022; 66(8):320-331.

PMID: 36397260 PMC: 10397997. DOI: 10.3345/cep.2022.00584.

Exopolysaccharides of Lactic Acid Bacteria: Production, Purification and Health Benefits towards Functional Food.

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Assessment of parents´ knowledge regarding phenylketonuria and its affecting factors: a cross-sectional study.

Ozturk F, Bulbul S, Alpcan A Pan Afr Med J. 2022; 41:308.

PMID: 35855041 PMC: 9250662. DOI: 10.11604/pamj.2022.41.308.25936.

Nutrient intake, body composition, and blood phenylalanine control in children with phenylketonuria compared to healthy controls.

Sailer M, Elizondo G, Martin J, Harding C, Gillingham M Mol Genet Metab Rep. 2020; 23:100599.

PMID: 32420034 PMC: 7218298. DOI: 10.1016/j.ymgmr.2020.100599.

References

Guttler F, Guldberg P . The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency. Eur J Pediatr. 1996; 155 Suppl 1:S6-10. DOI: 10.1007/pl00014253. View

Horrocks L, Yeo Y . Health benefits of docosahexaenoic acid (DHA). Pharmacol Res. 1999; 40(3):211-25. DOI: 10.1006/phrs.1999.0495. View

Beblo S, Reinhardt H, Muntau A, Mueller-Felber W, Roscher A, Koletzko B . Fish oil supplementation improves visual evoked potentials in children with phenylketonuria. Neurology. 2001; 57(8):1488-91. DOI: 10.1212/wnl.57.8.1488. View

Lanting C, Fidler V, Huisman M, Touwen B, Boersma E . Neurological differences between 9-year-old children fed breast-milk or formula-milk as babies. Lancet. 1994; 344(8933):1319-22. DOI: 10.1016/s0140-6736(94)90692-0. View

Agostoni C, Massetto N, Biasucci G, Rottoli A, Bonvissuto M, Bruzzese M . Effects of long-chain polyunsaturated fatty acid supplementation on fatty acid status and visual function in treated children with hyperphenylalaninemia. J Pediatr. 2000; 137(4):504-9. DOI: 10.1067/mpd.2000.108398. View

. Phenylketonuria due to phenylalanine hydroxylase deficiency: an unfolding story. Medical Research Council Working Party on Phenylketonuria. BMJ. 1993; 306(6870):115-9. PMC: 1676688. DOI: 10.1136/bmj.306.6870.115. View

McBurnie M, Kronmal R, Schuett V, Koch R, Azeng C . Physical growth of children treated for phenylketonuria. Ann Hum Biol. 1991; 18(4):357-68. DOI: 10.1080/03014469100001662. View

Agostoni C, Harvie A, McCulloch D, Demellweek C, Cockburn F, Giovannini M . A randomized trial of long-chain polyunsaturated fatty acid supplementation in infants with phenylketonuria. Dev Med Child Neurol. 2006; 48(3):207-12. DOI: 10.1017/S0012162206000442. View

Malcolm C, McCulloch D, Montgomery C, Shepherd A, Weaver L . Maternal docosahexaenoic acid supplementation during pregnancy and visual evoked potential development in term infants: a double blind, prospective, randomised trial. Arch Dis Child Fetal Neonatal Ed. 2003; 88(5):F383-90. PMC: 1721603. DOI: 10.1136/fn.88.5.f383. View

10.

van der Schot L, Doesburg W, Sengers R . The phenylalanine response curve in relation to growth and mental development in the first year of life. Acta Paediatr Suppl. 1994; 407:68-9. DOI: 10.1111/j.1651-2227.1994.tb13455.x. View

11.

ACOSTA P, Yannicelli S . Protein intake affects phenylalanine requirements and growth of infants with phenylketonuria. Acta Paediatr Suppl. 1994; 407:66-7. DOI: 10.1111/j.1651-2227.1994.tb13454.x. View

12.

Fiege B, Bonafe L, Ballhausen D, Baumgartner M, Thony B, Meili D . Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study. Mol Genet Metab. 2005; 86 Suppl 1:S91-5. DOI: 10.1016/j.ymgme.2005.09.014. View

13.

Infante J, Huszagh V . Impaired arachidonic (20:4n-6) and docosahexaenoic (22:6n-3) acid synthesis by phenylalanine metabolites as etiological factors in the neuropathology of phenylketonuria. Mol Genet Metab. 2001; 72(3):185-98. DOI: 10.1006/mgme.2001.3148. View

14.

Rigo J, Boehm G, Georgi G, Jelinek J, Nyambugabo K, Sawatzki G . An infant formula free of glycomacropeptide prevents hyperthreoninemia in formula-fed preterm infants. J Pediatr Gastroenterol Nutr. 2001; 32(2):127-30. DOI: 10.1097/00005176-200102000-00006. View

15.

Frenhani P, Burini R . [Mechanisms of absorption of amino acids and oligopeptides. Control and implications in human diet therapy]. Arq Gastroenterol. 2000; 36(4):227-37. DOI: 10.1590/s0004-28031999000400011. View

16.

ACOSTA P . Problems related to diet management of maternal phenylketonuria. J Inherit Metab Dis. 1986; 9 Suppl 2:183-201. DOI: 10.1007/BF01799703. View

17.

Scaglioni S, Verduci E, Fiori L, Lammardo A, Rossi S, Radaelli G . Body mass index rebound and overweight at 8 years of age in hyperphenylalaninaemic children. Acta Paediatr. 2005; 93(12):1596-600. View

18.

Raiha N . Milk protein quantity and quality and protein requirements during development. Adv Pediatr. 1989; 36:347-68. View

19.

Hoeksma M, van Rijn M, Verkerk P, Bosch A, Mulder M, de Klerk J . The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuria. J Inherit Metab Dis. 2006; 28(6):845-54. DOI: 10.1007/s10545-005-0122-x. View

20.

Muntau A, Roschinger W, Habich M, Demmelmair H, Hoffmann B, Sommerhoff C . Tetrahydrobiopterin as an alternative treatment for mild phenylketonuria. N Engl J Med. 2002; 347(26):2122-32. DOI: 10.1056/NEJMoa021654. View