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Reduced phenylalanine hydroxylase level

MedGen UID:
892453
Concept ID:
C4025094
Finding
Synonym: Reduced phenylalanine hydroxylase activity
 
HPO: HP:0005982

Definition

A reduction in phenylalanine 4-monooxygenase level. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Reduced phenylalanine hydroxylase level

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.

Professional guidelines

PubMed

Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net
Genet Med 2023 Sep;25(9):100358. Epub 2023 Jul 20 doi: 10.1016/j.gim.2022.12.005. PMID: 37470789
de Oliveira Filho JG, Carvalho ASES, Alves JDS, Egea MB
Nutr Rev 2022 Sep 5;80(10):2100-2112. doi: 10.1093/nutrit/nuac024. PMID: 35551410
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K
Mol Genet Metab 2019 May;127(1):1-11. Epub 2019 Apr 26 doi: 10.1016/j.ymgme.2019.04.004. PMID: 31103398

Recent clinical studies

Etiology

Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net
Genet Med 2023 Sep;25(9):100358. Epub 2023 Jul 20 doi: 10.1016/j.gim.2022.12.005. PMID: 37470789
Rendell MS
Drug Des Devel Ther 2019;13:817-824. Epub 2019 Mar 6 doi: 10.2147/DDDT.S144556. PMID: 30880915Free PMC Article
Teraishi T, Kajiwara M, Hori H, Sasayama D, Hidese S, Matsuo J, Ishida I, Kajiwara Y, Ozeki Y, Ota M, Hattori K, Higuchi T, Kunugi H
J Psychiatr Res 2018 Apr;99:142-150. Epub 2018 Feb 3 doi: 10.1016/j.jpsychires.2018.01.019. PMID: 29454221
Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A
Gen Physiol Biophys 2017 Oct;36(4):361-371. Epub 2017 Jun 27 doi: 10.4149/gpb_2017003. PMID: 28653649
Sanford M, Keating GM
Drugs 2009;69(4):461-76. doi: 10.2165/00003495-200969040-00006. PMID: 19323589

Diagnosis

Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K
Mol Genet Metab 2019 May;127(1):1-11. Epub 2019 Apr 26 doi: 10.1016/j.ymgme.2019.04.004. PMID: 31103398
Bao PZ, Ye J, Han LS, Qiu WJ, Zhang HW, Yu YG, Wang JG, Gu XF
World J Pediatr 2019 Feb;15(1):66-71. Epub 2018 Nov 15 doi: 10.1007/s12519-018-0202-2. PMID: 30443829
Contreras J, Alonso E, Fuentes LE
MEDICC Rev 2015 Jan;17(1):23-8. doi: 10.37757/MR2015.V17.N1.6. PMID: 25725765
Cerone R, Andria G, Giovannini M, Leuzzi V, Riva E, Burlina A
Adv Ther 2013 Mar;30(3):212-28. Epub 2013 Feb 20 doi: 10.1007/s12325-013-0011-x. PMID: 23436109
Longo N
J Inherit Metab Dis 2009 Jun;32(3):333-42. Epub 2009 Feb 9 doi: 10.1007/s10545-009-1067-2. PMID: 19234759

Therapy

Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net
Genet Med 2023 Sep;25(9):100358. Epub 2023 Jul 20 doi: 10.1016/j.gim.2022.12.005. PMID: 37470789
de Oliveira Filho JG, Carvalho ASES, Alves JDS, Egea MB
Nutr Rev 2022 Sep 5;80(10):2100-2112. doi: 10.1093/nutrit/nuac024. PMID: 35551410
Muntau AC, Adams DJ, Bélanger-Quintana A, Bushueva TV, Cerone R, Chien YH, Chiesa A, Coşkun T, de Las Heras J, Feillet F, Katz R, Lagler F, Piazzon F, Rohr F, van Spronsen FJ, Vargas P, Wilcox G, Bhattacharya K
Mol Genet Metab 2019 May;127(1):1-11. Epub 2019 Apr 26 doi: 10.1016/j.ymgme.2019.04.004. PMID: 31103398
Lyseng-Williamson KA
Drugs 2018 Jun;78(9):941-950. doi: 10.1007/s40265-018-0935-1. PMID: 29931594
Starr A, Hussein D, Nandi M
Vascul Pharmacol 2013 Mar;58(3):219-30. doi: 10.1016/j.vph.2012.08.002. PMID: 23634439

Prognosis

Liu Y, Westerhoff HV
J Inherit Metab Dis 2023 Jul;46(4):573-585. Epub 2023 Apr 7 doi: 10.1002/jimd.12603. PMID: 36880400
Qi Y, Patel G, Henshaw J, Gupta S, Olbertz J, Larimore K, Harding CO, Merilainen M, Zori R, Longo N, Burton BK, Li M, Gu Z, Zoog SJ, Weng HH, Schweighardt B
Clin Transl Sci 2021 Sep;14(5):1894-1905. Epub 2021 May 31 doi: 10.1111/cts.13043. PMID: 34057292Free PMC Article
Zhang X, Ye J, Shen N, Tao Y, Han L, Qiu W, Zhang H, Liang L, Fan Y, Wang J, Gong Z, Wang Y, You G, Fu Q, Mo X, Gu X, Yu Y
Gene 2019 Jul 30;707:239-245. Epub 2019 May 15 doi: 10.1016/j.gene.2019.05.029. PMID: 31102715
Scheller R, Stein A, Nielsen SV, Marin FI, Gerdes AM, Di Marco M, Papaleo E, Lindorff-Larsen K, Hartmann-Petersen R
Hum Mutat 2019 Apr;40(4):444-457. Epub 2019 Jan 25 doi: 10.1002/humu.23707. PMID: 30648773
Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A
Gen Physiol Biophys 2017 Oct;36(4):361-371. Epub 2017 Jun 27 doi: 10.4149/gpb_2017003. PMID: 28653649

Clinical prediction guides

de Oliveira Filho JG, Carvalho ASES, Alves JDS, Egea MB
Nutr Rev 2022 Sep 5;80(10):2100-2112. doi: 10.1093/nutrit/nuac024. PMID: 35551410
Rendell MS
Drug Des Devel Ther 2019;13:817-824. Epub 2019 Mar 6 doi: 10.2147/DDDT.S144556. PMID: 30880915Free PMC Article
Pecimonova M, Polak E, Csicsay F, Reblova K, Stojiljkovic M, Levarski Z, Skultety L, Kadasi L, Soltysova A
Gen Physiol Biophys 2017 Oct;36(4):361-371. Epub 2017 Jun 27 doi: 10.4149/gpb_2017003. PMID: 28653649
Sanford M, Keating GM
Drugs 2009;69(4):461-76. doi: 10.2165/00003495-200969040-00006. PMID: 19323589
Blau N, Bélanger-Quintana A, Demirkol M, Feillet F, Giovannini M, MacDonald A, Trefz FK, van Spronsen FJ
Mol Genet Metab 2009 Apr;96(4):158-63. Epub 2009 Feb 8 doi: 10.1016/j.ymgme.2009.01.002. PMID: 19208488

Recent systematic reviews

Adams AD, Fiesco-Roa MÓ, Wong L, Jenkins GP, Malinowski J, Demarest OM, Rothberg PG, Hobert JA; ACMG Therapeutics Committee. Electronic address: documents@acmg.net
Genet Med 2023 Sep;25(9):100358. Epub 2023 Jul 20 doi: 10.1016/j.gim.2022.12.005. PMID: 37470789

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