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Quoted phrase not found in phrase index: "Neutral hyperaminoaciduria"
Page 1
Genetic etiology and clinical challenges of phenylketonuria.
Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA. Elhawary NA, et al. Hum Genomics. 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. Hum Genomics. 2022. PMID: 35854334 Free PMC article. Review.
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recessive disease, is an inborn error of phenylalanine (Phe) metabolism caused by pathogenic variants in the phenylalanine hydroxyla …
This review discusses the epidemiology, pathophysiology, genetic etiology, and management of phenylketonuria (PKU). PKU, an autosomal recess …
The phenylketonuria patient: A recent dietetic therapeutic approach.
Manta-Vogli PD, Dotsikas Y, Loukas YL, Schulpis KH. Manta-Vogli PD, et al. Nutr Neurosci. 2020 Aug;23(8):628-639. doi: 10.1080/1028415X.2018.1538196. Epub 2018 Oct 25. Nutr Neurosci. 2020. PMID: 30359206 Review.
Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino Acid medical food (AA-mf), enriched in tyrosine (Tyr) and other amino acids and nutrients to avoid nutritional deficits. ...A …
Treatment consists of a lifelong restriction of Phe intake, combined with the supplementation of special medical foods, such as Amino …
Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Cleary M, Trefz F, Muntau AC, Feillet F, van Spronsen FJ, Burlina A, Bélanger-Quintana A, Giżewska M, Gasteyger C, Bettiol E, Blau N, MacDonald A. Cleary M, et al. Mol Genet Metab. 2013 Dec;110(4):418-23. doi: 10.1016/j.ymgme.2013.09.001. Epub 2013 Sep 9. Mol Genet Metab. 2013. PMID: 24090706 Free article. Review.
Factors that can affect phenylalanine fluctuations include age, diet, timing and dosing of protein substitute and energy intake, dietary adherence, phenylalanine hydroxylase genotype, changes in dietary phenylalanine intake and protein metabolism, illness, and growth rate. …
Factors that can affect phenylalanine fluctuations include age, diet, timing and dosing of protein substitute and energy intake, dietary adh …
Phenylketonuria: tyrosine beyond the phenylalanine-restricted diet.
van Spronsen FJ, Smit PG, Koch R. van Spronsen FJ, et al. J Inherit Metab Dis. 2001 Feb;24(1):1-4. doi: 10.1023/a:1005689232358. J Inherit Metab Dis. 2001. PMID: 11286377 Review.
It is concluded that treatment with tyrosine alone to replace the phenylalanine-restricted diet cannot be justified. A treatment with large neutral amino acids (LNAA) including tyrosine to restore the balance in the transport of phenylalanine and other LNAA across t …
It is concluded that treatment with tyrosine alone to replace the phenylalanine-restricted diet cannot be justified. A treatment with large …
Advances in the nutritional and pharmacological management of phenylketonuria.
Ney DM, Blank RD, Hansen KE. Ney DM, et al. Curr Opin Clin Nutr Metab Care. 2014 Jan;17(1):61-8. doi: 10.1097/MCO.0000000000000002. Curr Opin Clin Nutr Metab Care. 2014. PMID: 24136088 Free PMC article. Review.
Large neutral amino acids inhibit phe transport across the intestinal mucosa and blood-brain barrier, and are most effective for individuals unable to comply with the low-phe diet. ...GMP medical foods provide an alternative to amino acid formula that …
Large neutral amino acids inhibit phe transport across the intestinal mucosa and blood-brain barrier, and are most effective f …
Large neutral amino acids in the treatment of PKU: from theory to practice.
van Spronsen FJ, de Groot MJ, Hoeksma M, Reijngoud DJ, van Rijn M. van Spronsen FJ, et al. J Inherit Metab Dis. 2010 Dec;33(6):671-6. doi: 10.1007/s10545-010-9216-1. Epub 2010 Oct 26. J Inherit Metab Dis. 2010. PMID: 20976625 Free PMC article. Review.
Notwithstanding the success of the traditional dietary phenylalanine restriction treatment in phenylketonuria (PKU), the use of large neutral amino acid (LNAA) supplementation rather than phenylalanine restriction has been suggested. ...Following various theo …
Notwithstanding the success of the traditional dietary phenylalanine restriction treatment in phenylketonuria (PKU), the use of large neu …
Glycomacropeptide: long-term use and impact on blood phenylalanine, growth and nutritional status in children with PKU.
Daly A, Evans S, Chahal S, Santra S, Pinto A, Jackson R, Gingell C, Rocha J, Van Spronsen FJ, MacDonald A. Daly A, et al. Orphanet J Rare Dis. 2019 Feb 15;14(1):44. doi: 10.1186/s13023-019-1011-y. Orphanet J Rare Dis. 2019. PMID: 30770754 Free PMC article. Review.
In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino acids to ensure suitability as a protein substitute. The optimal amount and ratio of additional amino acids is undefined. AIM: A lo …
In phenylketonuria, casein glycomacropeptide (CGMP) requires modification with the addition of some essential and semi essential amino …
Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?
van Spronsen FJ, Hoeksma M, Reijngoud DJ. van Spronsen FJ, et al. J Inherit Metab Dis. 2009 Feb;32(1):46-51. doi: 10.1007/s10545-008-0946-2. Epub 2009 Jan 13. J Inherit Metab Dis. 2009. PMID: 19191004 Review.
The pathology underlying cognitive dysfunction in phenylketonuria is unknown, although it is clear that the high plasma concentrations of phenylalanine influence the blood-brain barrier transport of large neutral amino acids. The high plasma phenylalanine concentrat …
The pathology underlying cognitive dysfunction in phenylketonuria is unknown, although it is clear that the high plasma concentrations of ph …
Evaluation of pre-symptomatic nitisinone treatment on long-term outcomes in Tyrosinemia type 1 patients: a systematic review.
Geppert J, Stinton C, Freeman K, Fraser H, Clarke A, Johnson S, Sutcliffe P, Taylor-Phillips S. Geppert J, et al. Orphanet J Rare Dis. 2017 Sep 11;12(1):154. doi: 10.1186/s13023-017-0696-z. Orphanet J Rare Dis. 2017. PMID: 28893311 Free PMC article. Review.
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal without treatment. With medication (nitisinone) and dietary restrictions outcomes are improved. ...METHODS: We searched Web of Science, Medline …
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal wit …
Optimising amino acid absorption: essential to improve nitrogen balance and metabolic control in phenylketonuria.
MacDonald A, Singh RH, Rocha JC, van Spronsen FJ. MacDonald A, et al. Nutr Res Rev. 2019 Jun;32(1):70-78. doi: 10.1017/S0954422418000173. Epub 2018 Oct 4. Nutr Res Rev. 2019. PMID: 30284526 Free PMC article. Review.
However, a better understanding is needed of the factors that influence N balance in the context of amino acid supplementation. The aim of the present paper is to summarise considerations for improving N balance in patients with PKU, with a focus on gaining greater …
However, a better understanding is needed of the factors that influence N balance in the context of amino acid supplementation …
69 results