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Deficiency of monooxygenase

MedGen UID:
713624
•Concept ID:
C1291314
•
Disease or Syndrome
Synonym: Deficiency of hydroxylase
SNOMED CT: Deficiency of hydroxylase (124232007); Deficiency of monooxygenase (124232007)

Professional guidelines

PubMed

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Ku E, Del Vecchio L, Eckardt KU, Haase VH, Johansen KL, Nangaku M, Tangri N, Waikar SS, Więcek A, Cheung M, Jadoul M, Winkelmayer WC, Wheeler DC; for Conference Participants
Kidney Int 2023 Oct;104(4):655-680. Epub 2023 May 24 doi: 10.1016/j.kint.2023.05.009. PMID: 37236424
The management of congenital adrenal hyperplasia during preconception, pregnancy, and postpartum.
Maher JY, Gomez-Lobo V, Merke DP
Rev Endocr Metab Disord 2023 Feb;24(1):71-83. Epub 2022 Nov 18 doi: 10.1007/s11154-022-09770-5. PMID: 36399318Free PMC Article
Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management.
Claahsen-van der Grinten HL, Speiser PW, Ahmed SF, Arlt W, Auchus RJ, Falhammar H, Flück CE, Guasti L, Huebner A, Kortmann BBM, Krone N, Merke DP, Miller WL, Nordenström A, Reisch N, Sandberg DE, Stikkelbroeck NMML, Touraine P, Utari A, Wudy SA, White PC
Endocr Rev 2022 Jan 12;43(1):91-159. doi: 10.1210/endrev/bnab016. PMID: 33961029Free PMC Article

Recent clinical studies

Etiology

TET Enzymes in the Immune System: From DNA Demethylation to Immunotherapy, Inflammation, and Cancer.
López-Moyado IF, Ko M, Hogan PG, Rao A
Annu Rev Immunol 2024 Jun;42(1):455-488. Epub 2024 Jun 14 doi: 10.1146/annurev-immunol-080223-044610. PMID: 38360546
Association of Vitamin D Metabolism Gene Polymorphisms with Autoimmunity: Evidence in Population Genetic Studies.
Ruiz-Ballesteros AI, Meza-Meza MR, Vizmanos-Lamotte B, Parra-Rojas I, de la Cruz-Mosso U
Int J Mol Sci 2020 Dec 17;21(24) doi: 10.3390/ijms21249626. PMID: 33348854Free PMC Article
Phenylalanine hydroxylase deficiency.
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Alcohol and cancer.
Pöschl G, Seitz HK
Alcohol Alcohol 2004 May-Jun;39(3):155-65. doi: 10.1093/alcalc/agh057. PMID: 15082451

Diagnosis

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Ku E, Del Vecchio L, Eckardt KU, Haase VH, Johansen KL, Nangaku M, Tangri N, Waikar SS, Więcek A, Cheung M, Jadoul M, Winkelmayer WC, Wheeler DC; for Conference Participants
Kidney Int 2023 Oct;104(4):655-680. Epub 2023 May 24 doi: 10.1016/j.kint.2023.05.009. PMID: 37236424
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.
Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
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
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
PKU dietary handbook to accompany PKU guidelines.
MacDonald A, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Burlina A, Campistol J, Coşkun T, Feillet F, Giżewska M, Huijbregts SC, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz F, van Spronsen FJ
Orphanet J Rare Dis 2020 Jun 30;15(1):171. doi: 10.1186/s13023-020-01391-y. PMID: 32605583Free PMC Article
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW
Molecules 2019 Sep 6;24(18) doi: 10.3390/molecules24183251. PMID: 31500110Free PMC Article

Therapy

Novel anemia therapies in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.
Ku E, Del Vecchio L, Eckardt KU, Haase VH, Johansen KL, Nangaku M, Tangri N, Waikar SS, Więcek A, Cheung M, Jadoul M, Winkelmayer WC, Wheeler DC; for Conference Participants
Kidney Int 2023 Oct;104(4):655-680. Epub 2023 May 24 doi: 10.1016/j.kint.2023.05.009. PMID: 37236424
Challenges in treatment of patients with non-classic congenital adrenal hyperplasia.
Adriaansen BPH, Schröder MAM, Span PN, Sweep FCGJ, van Herwaarden AE, Claahsen-van der Grinten HL
Front Endocrinol (Lausanne) 2022;13:1064024. Epub 2022 Dec 12 doi: 10.3389/fendo.2022.1064024. PMID: 36578966Free PMC Article
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
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
Hypoxia-Inducible Factor Prolyl Hydroxylase Inhibitors: A Potential New Treatment for Anemia in Patients With CKD.
Gupta N, Wish JB
Am J Kidney Dis 2017 Jun;69(6):815-826. Epub 2017 Feb 24 doi: 10.1053/j.ajkd.2016.12.011. PMID: 28242135
Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.
Christakos S, Dhawan P, Verstuyf A, Verlinden L, Carmeliet G
Physiol Rev 2016 Jan;96(1):365-408. doi: 10.1152/physrev.00014.2015. PMID: 26681795Free PMC Article

Prognosis

A Review of the Important Role of CYP2D6 in Pharmacogenomics.
Taylor C, Crosby I, Yip V, Maguire P, Pirmohamed M, Turner RM
Genes (Basel) 2020 Oct 30;11(11) doi: 10.3390/genes11111295. PMID: 33143137Free PMC Article
Genetics of Phenylketonuria: Then and Now.
Blau N
Hum Mutat 2016 Jun;37(6):508-15. Epub 2016 Mar 18 doi: 10.1002/humu.22980. PMID: 26919687
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N
Hum Mutat 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. PMID: 17935162
Dopamine beta-hydroxylase deficiency.
Senard JM, Rouet P
Orphanet J Rare Dis 2006 Mar 30;1:7. doi: 10.1186/1750-1172-1-7. PMID: 16722595Free PMC Article

Clinical prediction guides

A Review of the Important Role of CYP2D6 in Pharmacogenomics.
Taylor C, Crosby I, Yip V, Maguire P, Pirmohamed M, Turner RM
Genes (Basel) 2020 Oct 30;11(11) doi: 10.3390/genes11111295. PMID: 33143137Free PMC Article
Genetics of Phenylketonuria: Then and Now.
Blau N
Hum Mutat 2016 Jun;37(6):508-15. Epub 2016 Mar 18 doi: 10.1002/humu.22980. PMID: 26919687
Vitamin D: Metabolism, Molecular Mechanism of Action, and Pleiotropic Effects.
Christakos S, Dhawan P, Verstuyf A, Verlinden L, Carmeliet G
Physiol Rev 2016 Jan;96(1):365-408. doi: 10.1152/physrev.00014.2015. PMID: 26681795Free PMC Article
Dystonia-plus syndromes.
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N
Hum Mutat 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. PMID: 17935162

Recent systematic reviews

Phenylalanine hydroxylase deficiency treatment and management: A systematic evidence review of the American College of Medical Genetics and Genomics (ACMG).
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
Ethnic and National Differences in Congenital Adrenal Hyperplasia Incidence: A Systematic Review and Meta-Analysis.
Navarro-Zambrana AN, Sheets LR
Horm Res Paediatr 2023;96(3):249-258. Epub 2022 Aug 16 doi: 10.1159/000526401. PMID: 35973409
Effects of CYP2R1 gene variants on vitamin D levels and status: A systematic review and meta-analysis.
Duan L, Xue Z, Ji H, Zhang D, Wang Y
Gene 2018 Dec 15;678:361-369. Epub 2018 Aug 16 doi: 10.1016/j.gene.2018.08.056. PMID: 30120973
Thyroid disorders in polycystic ovary syndrome.
Kowalczyk K, Franik G, Kowalczyk D, Pluta D, Blukacz Ł, Madej P
Eur Rev Med Pharmacol Sci 2017 Jan;21(2):346-360. PMID: 28165551
Protein substitute for children and adults with phenylketonuria.
Yi SH, Singh RH
Cochrane Database Syst Rev 2015 Feb 27;2015(2):CD004731. doi: 10.1002/14651858.CD004731.pub4. PMID: 25723866Free PMC Article

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