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Disorder of phenylalanine metabolism

MedGen UID:
541325
•Concept ID:
C0268461
•
Disease or Syndrome
Synonym: disorder of phenylalanine metabolism
SNOMED CT: Disorder of phenylalanine metabolism (12957008)
 
Monarch Initiative: MONDO:0017306
Orphanet: ORPHA284814

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of phenylalanine metabolism
Follow this link to review classifications for Disorder of phenylalanine metabolism in Orphanet.

Professional guidelines

PubMed

Patient advocacy in newborn screening: continuities and discontinuities.
Paul DB
Am J Med Genet C Semin Med Genet 2008 Feb 15;148C(1):8-14. doi: 10.1002/ajmg.c.30166. PMID: 18200523
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?
Clemens PC, Neumann SJ, Wulke AP, Burmester JG
Prev Med 1990 Jan;19(1):54-60. doi: 10.1016/0091-7435(90)90007-7. PMID: 2181433

Recent clinical studies

Etiology

Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion, Number 802.
Obstet Gynecol 2020 Apr;135(4):e167-e170. doi: 10.1097/AOG.0000000000003768. PMID: 32217978
Management of Women With Phenylalanine Hydroxylase Deficiency (Phenylketonuria): ACOG Committee Opinion Summary, Number 802.
Obstet Gynecol 2020 Apr;135(4):987-988. doi: 10.1097/AOG.0000000000003769. PMID: 32217972
"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.
Ten Hoedt AE, Hollak CE, Boelen CC, van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM
Orphanet J Rare Dis 2011 Jun 27;6:48. doi: 10.1186/1750-1172-6-48. PMID: 21708003Free PMC Article
Patient advocacy in newborn screening: continuities and discontinuities.
Paul DB
Am J Med Genet C Semin Med Genet 2008 Feb 15;148C(1):8-14. doi: 10.1002/ajmg.c.30166. PMID: 18200523
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?
Clemens PC, Neumann SJ, Wulke AP, Burmester JG
Prev Med 1990 Jan;19(1):54-60. doi: 10.1016/0091-7435(90)90007-7. PMID: 2181433

Diagnosis

An update of the mutation spectrum of phenylalanine hydroxylase (PAH) gene in the population of Turkey.
Ozturk FN, Akin Duman T
J Pediatr Endocrinol Metab 2022 May 25;35(5):663-668. Epub 2022 Apr 12 doi: 10.1515/jpem-2021-0556. PMID: 35405047
Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria.
Wang L, He B, Jin Q, Bai R, Yu W, Qiang R, Wang X
J Pediatr Endocrinol Metab 2022 Mar 28;35(3):387-391. Epub 2022 Jan 14 doi: 10.1515/jpem-2021-0336. PMID: 35026061
A capillary electrophoresis-based variant hotspot genotyping method for rapid and reliable analysis of the phenylalanine hydroxylase gene in the Chinese Han population.
Shao B, Liu A, Zhang J, Wang Y, Qiao F, Zhang C, Zhu Y, Lin Y, Hu P, Tao T, Jiang Z, Tan J, Xu Z
Clin Chim Acta 2021 Dec;523:267-272. Epub 2021 Oct 12 doi: 10.1016/j.cca.2021.10.009. PMID: 34653385
Phenylketonuria.
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM
Nat Rev Dis Primers 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. PMID: 34017006Free PMC Article
Patient advocacy in newborn screening: continuities and discontinuities.
Paul DB
Am J Med Genet C Semin Med Genet 2008 Feb 15;148C(1):8-14. doi: 10.1002/ajmg.c.30166. PMID: 18200523

Therapy

"MY PKU": increasing self-management in patients with phenylketonuria. A randomized controlled trial.
Ten Hoedt AE, Hollak CE, Boelen CC, van der Herberg-van de Wetering NA, Ter Horst NM, Jonkers CF, Wijburg FA, Bosch AM
Orphanet J Rare Dis 2011 Jun 27;6:48. doi: 10.1186/1750-1172-6-48. PMID: 21708003Free PMC Article

Prognosis

PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Wang ZW, Jiang SW, Zhou BC
Kaohsiung J Med Sci 2018 Feb;34(2):89-94. Epub 2017 Oct 5 doi: 10.1016/j.kjms.2017.09.006. PMID: 29413232
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuria.
Bosch AM, Tybout W, van Spronsen FJ, de Valk HW, Wijburg FA, Grootenhuis MA
J Inherit Metab Dis 2007 Feb;30(1):29-34. Epub 2006 Dec 11 doi: 10.1007/s10545-006-0433-6. PMID: 17160615
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?
Clemens PC, Neumann SJ, Wulke AP, Burmester JG
Prev Med 1990 Jan;19(1):54-60. doi: 10.1016/0091-7435(90)90007-7. PMID: 2181433

Clinical prediction guides

PAH mutation spectrum and correlation with PKU manifestation in north Jiangsu province population.
Wang ZW, Jiang SW, Zhou BC
Kaohsiung J Med Sci 2018 Feb;34(2):89-94. Epub 2017 Oct 5 doi: 10.1016/j.kjms.2017.09.006. PMID: 29413232
Newborn screening for hyperphenylalaninemia on day 5: is 240 mumol/liter the most appropriate cut-off level?
Clemens PC, Neumann SJ, Wulke AP, Burmester JG
Prev Med 1990 Jan;19(1):54-60. doi: 10.1016/0091-7435(90)90007-7. PMID: 2181433

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      Clinical tests in GTR
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