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Maternal phenylketonuria(MPKU)

MedGen UID:
88435
•Concept ID:
C0085547
•
Disease or Syndrome
Synonyms: Hyperphenylalaninemic embryopathy; MPKU
SNOMED CT: Maternal phenylketonuria (297225000)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016366
OMIM®: 261600
Orphanet: ORPHA2209

Definition

A rare disorder of phenylalanine (Phe) metabolism, an inborn error of amino acid metabolism, characterized by the development of microcephaly, growth retardation, congenital heart disease, facial dysmorphism and intellectual disability in non-phenylketonuric offspring of mothers with excess blood Phe concentrations. [from ORDO]

Professional guidelines

PubMed

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
Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H
Pediatr Int 2021 Jan;63(1):8-12. Epub 2021 Jan 10 doi: 10.1111/ped.14399. PMID: 33423362
A practical approach to maternal phenylketonuria management.
Maillot F, Cook P, Lilburn M, Lee PJ
J Inherit Metab Dis 2007 Apr;30(2):198-201. Epub 2007 Mar 9 doi: 10.1007/s10545-007-0436-y. PMID: 17351826

Recent clinical studies

Etiology

Tyrosine supplementation for phenylketonuria.
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Maternal phenylketonuria in Turkey: outcomes of 71 pregnancies and issues in management.
Yıldız Y, Sivri HS
Eur J Pediatr 2019 Jul;178(7):1005-1011. Epub 2019 May 3 doi: 10.1007/s00431-019-03387-8. PMID: 31053953
Risk Factors for Birth Defects.
Harris BS, Bishop KC, Kemeny HR, Walker JS, Rhee E, Kuller JA
Obstet Gynecol Surv 2017 Feb;72(2):123-135. doi: 10.1097/OGX.0000000000000405. PMID: 28218773
Adult phenylketonuria.
Hanley WB
Am J Med 2004 Oct 15;117(8):590-5. doi: 10.1016/j.amjmed.2004.03.042. PMID: 15465508
Phenylketonuria and maternal phenylketonuria.
Purnell H
Breastfeed Rev 2001 Jul;9(2):19-21. PMID: 11550601

Diagnosis

Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H
Pediatr Int 2021 Jan;63(1):8-12. Epub 2021 Jan 10 doi: 10.1111/ped.14399. PMID: 33423362
Maternal phenylketonuria.
Paprocka J, Jamroz E, Wiktor M, Marszał E
Wiad Lek 2009;62(1):11-7. PMID: 19817251
Adult phenylketonuria.
Hanley WB
Am J Med 2004 Oct 15;117(8):590-5. doi: 10.1016/j.amjmed.2004.03.042. PMID: 15465508
Phenylketonuria and maternal phenylketonuria.
Purnell H
Breastfeed Rev 2001 Jul;9(2):19-21. PMID: 11550601
Maternal phenylketonuria.
Arthur LJ
Br Med J 1970 Nov 14;4(5732):431. doi: 10.1136/bmj.4.5732.431. PMID: 5481526Free PMC Article

Therapy

Tyrosine supplementation for phenylketonuria.
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H
Pediatr Int 2021 Jan;63(1):8-12. Epub 2021 Jan 10 doi: 10.1111/ped.14399. PMID: 33423362
Tyrosine supplementation for phenylketonuria.
Webster D, Wildgoose J
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD001507. doi: 10.1002/14651858.CD001507.pub3. PMID: 23737086Free PMC Article
Tyrosine supplementation for phenylketonuria.
Webster D, Wildgoose J
Cochrane Database Syst Rev 2010 Aug 4;(8):CD001507. doi: 10.1002/14651858.CD001507.pub2. PMID: 20687067
Maternal phenylketonuria and tetrahydrobiopterin.
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257

Prognosis

Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background.
Caletti MT, Bettocchi I, Baronio F, Brodosi L, Cataldi S, Petroni ML, Cassio A, Marchesini G
Nutr Metab Cardiovasc Dis 2020 Jun 9;30(6):977-983. Epub 2020 Feb 20 doi: 10.1016/j.numecd.2020.02.003. PMID: 32409273
Maternal phenylketonuria and tetrahydrobiopterin.
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
National Institutes of Health Consensus Development Conference Statement: phenylketonuria: screening and management, October 16-18, 2000.
National Institutes of Health Consensus Development Panel
Pediatrics 2001 Oct;108(4):972-82. doi: 10.1542/peds.108.4.972. PMID: 11581453
Congenital heart disease in maternal phenylketonuria: report from the Maternal PKU Collaborative Study.
Levy HL, Guldberg P, Güttler F, Hanley WB, Matalon R, Rouse BM, Trefz F, Azen C, Allred EN, de la Cruz F, Koch R
Pediatr Res 2001 May;49(5):636-42. doi: 10.1203/00006450-200105000-00005. PMID: 11328945
MRI characterization of cerebral dysgenesis in maternal PKU.
Allen RJ, Brunberg J, Schwartz E, Schaefer AM, Jackson G
Acta Paediatr Suppl 1994 Dec;407:83-5. doi: 10.1111/j.1651-2227.1994.tb13460.x. PMID: 7766967

Clinical prediction guides

Guide for diagnosis and treatment of hyperphenylalaninemia.
Shintaku H, Ohura T, Takayanagi M, Kure S, Owada M, Matsubara Y, Yoshino M, Okano Y, Ito T, Okuyama T, Nakamura K, Matuo M, Endo F, Ida H
Pediatr Int 2021 Jan;63(1):8-12. Epub 2021 Jan 10 doi: 10.1111/ped.14399. PMID: 33423362
Maternal phenylketonuria in Western Australia: pregnancy outcomes and developmental outcomes in offspring.
Ng TW, Rae A, Wright H, Gurry D, Wray J
J Paediatr Child Health 2003 Jul;39(5):358-63. doi: 10.1046/j.1440-1754.2003.00174.x. PMID: 12887666
Maternal phenylketonuria: an international study.
Koch R, Hanley W, Levy H, Matalon R, Rouse B, Trefz F, Guttler F, Azen C, Friedman E, Platt L, de la Cruz F
Mol Genet Metab 2000 Sep-Oct;71(1-2):233-9. doi: 10.1006/mgme.2000.3038. PMID: 11001815
Maternal non-phenylketonuric mild hyperphenylalaninemia.
Levy HL, Waisbren SE, Lobbregt D, Allred E, Leviton A, Koch R, Hanley WB, Rouse B, Matalon R, de la Cruz F
Eur J Pediatr 1996 Jul;155 Suppl 1:S20-5. doi: 10.1007/pl00014243. PMID: 8828603
MRI characterization of cerebral dysgenesis in maternal PKU.
Allen RJ, Brunberg J, Schwartz E, Schaefer AM, Jackson G
Acta Paediatr Suppl 1994 Dec;407:83-5. doi: 10.1111/j.1651-2227.1994.tb13460.x. PMID: 7766967

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
Tyrosine supplementation for phenylketonuria.
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Tyrosine supplementation for phenylketonuria.
Webster D, Wildgoose J
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD001507. doi: 10.1002/14651858.CD001507.pub3. PMID: 23737086Free PMC Article
Tyrosine supplementation for phenylketonuria.
Webster D, Wildgoose J
Cochrane Database Syst Rev 2010 Aug 4;(8):CD001507. doi: 10.1002/14651858.CD001507.pub2. PMID: 20687067
Tyrosine supplementation for phenylketonuria.
Poustie VJ, Rutherford P
Cochrane Database Syst Rev 2000;(2):CD001507. doi: 10.1002/14651858.CD001507. PMID: 10796799

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