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Page 1
The complete European guidelines on phenylketonuria: diagnosis and treatment.
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ. van Wegberg AMJ, et al. Orphanet J Rare Dis. 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. Orphanet J Rare Dis. 2017. PMID: 29025426 Free PMC article. Review.
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine into tyrosine. ...In addition, knowledge gaps are identified which require further resea …
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism caused by deficiency in the enzyme ph …
Overview of symptoms and treatment for lysinuric protein intolerance.
Noguchi A, Takahashi T. Noguchi A, et al. J Hum Genet. 2019 Sep;64(9):849-858. doi: 10.1038/s10038-019-0620-6. Epub 2019 Jun 18. J Hum Genet. 2019. PMID: 31213652 Review.
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functional abnormality of y(+)L amino acid transporter-1 (y(+) LAT-1). ...Although the former can cause death, malnutrition, and urea …
Lysinuric protein intolerance (LPI) is caused by dysfunction of the dibasic amino acid membrane transport owing to the functio …
Future treatment strategies in phenylketonuria.
van Spronsen FJ, Enns GM. van Spronsen FJ, et al. Mol Genet Metab. 2010;99 Suppl 1:S90-5. doi: 10.1016/j.ymgme.2009.10.008. Mol Genet Metab. 2010. PMID: 20123478 Review.
Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical foods, glycomacropeptide, large neutral amino acids, and tetrahydrobiopterin. Human trials are underway using an enzymatic ther …
Recent times have seen the introduction of a wide array of novel treatments currently in clinical use, including more palatable medical food …
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 …
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.
Skeletal fragility in murine PKU is attenuated with the GMP diet, compared with an amino acid diet, allowing greater radial bone growth. Pharmacologic therapy with tetrahydrobiopterin, acting as a molecular chaperone for phenylalanine hydroxylase, increases t …
Skeletal fragility in murine PKU is attenuated with the GMP diet, compared with an amino acid diet, allowing greater radial bo …
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. ...
BACKGROUND: Tyrosinemia type 1 (TYR1) is a rare autosomal recessive disorder of amino acid metabolism that is fatal wit …
Development of newborn screening connect (NBS connect): a self-reported patient registry and its role in improvement of care for patients with inherited metabolic disorders.
Osara Y, Coakley K, Devarajan A, Singh RH. Osara Y, et al. Orphanet J Rare Dis. 2017 Jul 19;12(1):132. doi: 10.1186/s13023-017-0684-3. Orphanet J Rare Dis. 2017. PMID: 28724394 Free PMC article.
Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of life. Resources such as education materials, information on the latest research and clinical trials, recipes, interactive health tracking sys …
Participants complete online profiles generating data on diagnosis, treatment, symptoms, outcomes, barriers to care, and quality of l …
19 results