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Pathway Description
Phenylketonuria
Homo sapiens
Disease Pathway
Phenylketonuria, also called Folling disease, is a rare inborn error of metabolism (IEM) and autosomal recessive disorder that affects the proper processing of phenylalanine caused by a defective phenylalanine hydroxylase. Phenylalanine hydroxylase breaks down phenylalanine from the diet. This disorder is characterized by a large accumulation of phenylalanine in the blood and other tissues. It is also characterized by an accumulation of Phenylpyruvic acid, Mandelic acid, Phenylacetic acid, Phenylacetylglutamine, and Glycine in the blood and urine. Symptoms of the disorder include behavioural problems, psychiatric disorders and seizures. Treatment eating a diet limiting the intake of phenylalanine is very effective. It is estimated that phenylketonuria affects 1 in 15,000 individuals in the United States.
References
Phenylketonuria References
Engelke, U., van der Graaf, M., Heerschap, A., Hoenderop, S., Moolenaar, S., Morava, E., Wevers, R. Handbook of 1H-NMR spectroscopy in inborn errors of metabolism: body fluid NMR spectroscopy and in vivo MR spectroscopy (2nd ed) (2007) p.80 Heilbronn: SPS Verlagsgesellschaft
Burgard P, Rupp A, Konecki DS, Trefz FK, Schmidt H, Lichter-Konecki U: Phenylalanine hydroxylase genotypes, predicted residual enzyme activity and phenotypic parameters of diagnosis and treatment of phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S11-5. doi: 10.1007/pl00014222.
Pubmed: 8828601
Eisensmith RC, Woo SL: Gene therapy for phenylketonuria. Eur J Pediatr. 1996 Jul;155 Suppl 1:S16-9. doi: 10.1007/pl00014237.
Pubmed: 8828602
Hanley WB, Lee AW, Hanley AJ, Lehotay DC, Austin VJ, Schoonheyt WE, Platt BA, Clarke JT: "Hypotyrosinemia" in phenylketonuria. Mol Genet Metab. 2000 Apr;69(4):286-94. doi: 10.1006/mgme.2000.2985.
Pubmed: 10870846
Kalaydjieva L, Dworniczak B, Kucinskas V, Yurgeliavicius V, Kunert E, Horst J: Geographical distribution gradients of the major PKU mutations and the linked haplotypes. Hum Genet. 1991 Feb;86(4):411-3. doi: 10.1007/BF00201847.
Pubmed: 1671852
Sumaily KM, Mujamammi AH: Phenylketonuria: A new look at an old topic, advances in laboratory diagnosis, and therapeutic strategies. Int J Health Sci (Qassim). 2017 Nov-Dec;11(5):63-70.
Pubmed: 29114196
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Kanehisa M, Furumichi M, Sato Y, Kawashima M, Ishiguro-Watanabe M: KEGG for taxonomy-based analysis of pathways and genomes. Nucleic Acids Res. 2023 Jan 6;51(D1):D587-D592. doi: 10.1093/nar/gkac963.
Pubmed: 36300620
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F: Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis. Molecules. 2023 Jun 22;28(13):4916. doi: 10.3390/molecules28134916.
Pubmed: 37446577
Blau K: Aromatic acid excretion in phenylketonuria. Analysis of the unconjugated aromatic acids derived from phenylalanine. Clin Chim Acta. 1970 Jan;27(1):5-18. doi: 10.1016/0009-8981(70)90368-2.
Pubmed: 5412612
Wild J, Shanmuganathan M, Hayashi M, Potter M, Britz-McKibbin P: Metabolomics for improved treatment monitoring of phenylketonuria: urinary biomarkers for non-invasive assessment of dietary adherence and nutritional deficiencies. Analyst. 2019 Nov 4;144(22):6595-6608. doi: 10.1039/c9an01642b.
Pubmed: 31608347
Lukito BR, Wang Z, Sundara Sekar B, Li Z: Production of (R)-mandelic acid from styrene, L-phenylalanine, glycerol, or glucose via cascade biotransformations. Bioresour Bioprocess. 2021 Mar 4;8(1):22. doi: 10.1186/s40643-021-00374-6.
Pubmed: 38650227
Glushakov AV, Dennis DM, Morey TE, Sumners C, Cucchiara RF, Seubert CN, Martynyuk AE: Specific inhibition of N-methyl-D-aspartate receptor function in rat hippocampal neurons by L-phenylalanine at concentrations observed during phenylketonuria. Mol Psychiatry. 2002;7(4):359-67. doi: 10.1038/sj.mp.4000976.
Pubmed: 11986979
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