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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); PAH-gene related maternal phenylketonuria (297225000); Maternal PKU (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).
 
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

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
Arthur LJ, Gray H
Br Med J 1979 Aug 25;2(6188):498. doi: 10.1136/bmj.2.6188.498. PMID: 487025Free PMC Article
Kutter D, Thoma J
Br Med J 1979 Jul 28;2(6184):272. doi: 10.1136/bmj.2.6184.272-b. PMID: 476410Free PMC Article

Recent clinical studies

Etiology

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
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
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
Hanley WB
Am J Med 2004 Oct 15;117(8):590-5. doi: 10.1016/j.amjmed.2004.03.042. PMID: 15465508
Koch R, Friedman EG, Wenz E, Jew K, Crowley C, Donnell G
J Inherit Metab Dis 1986;9 Suppl 2:159-68. doi: 10.1007/BF01799700. PMID: 3095585

Diagnosis

Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
Welch JP
Br Med J 1971 Jan 2;1(5739):46-7. doi: 10.1136/bmj.1.5739.46-a. PMID: 5539148Free PMC Article
Arthur LJ
Br Med J 1970 Nov 14;4(5732):431. doi: 10.1136/bmj.4.5732.431. PMID: 5481526Free PMC Article
Br Med J 1970 Oct 24;4(5729):192. PMID: 5472778Free PMC Article
Forbes NP, Shaw KN, Koch R, Coffelt RW, Straus R
Nurs Outlook 1966 Jan;14(1):40-2. PMID: 5174870

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
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
Koch R, Moseley K, Guttler F
Mol Genet Metab 2005 Dec;86 Suppl 1:S139-41. doi: 10.1016/j.ymgme.2005.09.004. PMID: 16338627
Brenton DP
Eur J Clin Nutr 1989;43 Suppl 1:13-7. PMID: 2786806

Prognosis

Koch R
Pediatrics 2008 Dec;122(6):1367-8. doi: 10.1542/peds.2008-2783. PMID: 19047257
Stone K
S D J Med 2002 Sep;55(9):395-7. PMID: 12360642
Nutr Rev 1994 Nov;52(11):390-3. doi: 10.1111/j.1753-4887.1994.tb01371.x. PMID: 7854653
Murphy D, Saul I, Kirby M
Ir J Med Sci 1985 Feb;154(2):66-70. doi: 10.1007/BF02937145. PMID: 3988490
Huntley CC, Stevenson RE
Obstet Gynecol 1969 Nov;34(5):694-700. PMID: 5391176

Clinical prediction guides

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
Levy HL
Pediatrics 2003 Dec;112(6 Pt 2):1516-8. PMID: 14654656
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
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
Brenton DP, Lilburn M
Eur J Pediatr 1996 Jul;155 Suppl 1:S177-80. doi: 10.1007/pl00014242. PMID: 8828640

Recent systematic reviews

Leone G, Meli C, Falsaperla R, Gullo F, Licciardello L, La Spina L, Messina M, Lo Bianco M, Sapuppo A, Pappalardo MG, Iacobacci R, Arena A, Vecchio M, Ruggieri M, Polizzi A, Praticò AD
Nutrients 2025 Feb 14;17(4) doi: 10.3390/nu17040678. PMID: 40005006Free PMC Article
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
Remmington T, Smith S
Cochrane Database Syst Rev 2021 Jan 4;1(1):CD001507. doi: 10.1002/14651858.CD001507.pub4. PMID: 33427303Free PMC Article
Webster D, Wildgoose J
Cochrane Database Syst Rev 2013 Jun 5;2013(6):CD001507. doi: 10.1002/14651858.CD001507.pub3. PMID: 23737086Free PMC Article
Webster D, Wildgoose J
Cochrane Database Syst Rev 2010 Aug 4;(8):CD001507. doi: 10.1002/14651858.CD001507.pub2. PMID: 20687067

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