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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

Inborn errors of metabolism and pregnancy.
Murphey K, Krishna I, Li H
Am J Obstet Gynecol MFM 2024 Aug;6(8):101399. Epub 2024 Jun 12 doi: 10.1016/j.ajogmf.2024.101399. PMID: 38871294
New challenges in management of phenylketonuria in pregnancy: a case report.
Ugalde-Abiega B, Stanescu S, Belanger A, Martinez-Pardo M, Arrieta F
J Med Case Rep 2023 Nov 9;17(1):465. doi: 10.1186/s13256-023-04209-0. PMID: 37941064Free PMC Article
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

Inborn errors of metabolism and pregnancy.
Murphey K, Krishna I, Li H
Am J Obstet Gynecol MFM 2024 Aug;6(8):101399. Epub 2024 Jun 12 doi: 10.1016/j.ajogmf.2024.101399. PMID: 38871294
New challenges in management of phenylketonuria in pregnancy: a case report.
Ugalde-Abiega B, Stanescu S, Belanger A, Martinez-Pardo M, Arrieta F
J Med Case Rep 2023 Nov 9;17(1):465. doi: 10.1186/s13256-023-04209-0. PMID: 37941064Free PMC Article
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

Therapy

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
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
Maternal phenylketonuria and tetrahydrobiopterin.
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257

Prognosis

Comparison of phenylalanine tolerance in singleton and twin pregnancies in patients with phenylketonuria.
Hozyasz KK, Żółkowska J, Chyż K
J Int Med Res 2020 Sep;48(9):300060520934623. doi: 10.1177/0300060520934623. PMID: 32962492Free PMC Article
Maternal phenylketonuria and tetrahydrobiopterin.
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
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
Maternal phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
Rouse B, Matalon R, Koch R, Azen C, Levy H, Hanley W, Trefz F, de la Cruz F
J Pediatr 2000 Jan;136(1):57-61. doi: 10.1016/s0022-3476(00)90050-7. PMID: 10636975
Editorial comment on phenylketonuria.
Zetterström R
Acta Paediatr 1995 Jul;84(7):716-8. doi: 10.1111/j.1651-2227.1995.tb13743.x. PMID: 7549285

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: the French survey.
Feillet F, Abadie V, Berthelot J, Maurin N, Ogier H, Vidailhet M, Farriaux JP, de Parscau L
Eur J Pediatr 2004 Sep;163(9):540-6. Epub 2004 Jul 6 doi: 10.1007/s00431-004-1482-1. PMID: 15241684
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 phenylketonuria syndrome: congenital heart defects, microcephaly, and developmental outcomes.
Rouse B, Matalon R, Koch R, Azen C, Levy H, Hanley W, Trefz F, de la Cruz F
J Pediatr 2000 Jan;136(1):57-61. doi: 10.1016/s0022-3476(00)90050-7. PMID: 10636975

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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