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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]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Disorder of phenylalanine metabolism
- Maternal phenylketonuria

Follow this link to review classifications for Maternal phenylketonuria in Orphanet.

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

Acosta PB, Stepnick-Gropper S
J Inherit Metab Dis 1986;9 Suppl 2:183-201. doi: 10.1007/BF01799703. PMID: 2877116

See all (21)

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: 33427303 Free PMC Article

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

The significant role of amino acids during pregnancy: nutritional support.

Manta-Vogli PD, Schulpis KH, Dotsikas Y, Loukas YL
J Matern Fetal Neonatal Med 2020 Jan;33(2):334-340. Epub 2018 Jul 30 doi: 10.1080/14767058.2018.1489795. PMID: 29909700

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: 23737086 Free 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

See all (103)

Diagnosis

Neurotoxicity of phenylalanine on human iPSC-derived cerebral organoids.

Kim J, Lee S, Lee J, Park JC, Kim KH, Ko JM, Park SH, Kim SK, Mook-Jung I, Lee JY
Mol Genet Metab 2022 Jun;136(2):132-144. Epub 2022 May 2 doi: 10.1016/j.ymgme.2022.04.005. PMID: 35562278

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: 33427303 Free PMC Article

Lowe TB, DeLuca J, Arnold GL
Orphanet J Rare Dis 2020 Sep 25;15(1):266. doi: 10.1186/s13023-020-01541-2. PMID: 32977849 Free 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: 23737086 Free 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

See all (72)

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: 33427303 Free 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: 23737086 Free 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

Clinical teratology.

McCormack MK
Am Fam Physician 1983 Dec;28(6):153-61. PMID: 6650332

See all (61)

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

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

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

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

Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development: pathological report, survey, clinical application.

Fisch RO, Burke B, Bass J, Ferrara TB, Mastri A
Pediatr Pathol 1986;5(3-4):449-61. doi: 10.3109/15513818609068869. PMID: 3537998

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Clinical prediction guides

Effect of high maternal blood phenylalanine on offspring congenital anomalies and developmental outcome at ages 4 and 6 years: the importance of strict dietary control preconception and throughout pregnancy.

Rouse B, Azen C
J Pediatr 2004 Feb;144(2):235-9. doi: 10.1016/j.jpeds.2003.10.062. PMID: 14760268

Nutrient intake and congenital heart defects in maternal phenylketonuria.

Michals-Matalon K, Platt LD, Acosta P P, Azen C, Walla CA
Am J Obstet Gynecol 2002 Aug;187(2):441-4. doi: 10.1067/mob.2002.124276. PMID: 12193940

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

Selenium status in infants and children with phenylketonuria and in maternal phenylketonuria.

Lombeck I, Jochum F, Terwolbeck K
Eur J Pediatr 1996 Jul;155 Suppl 1:S140-4. doi: 10.1007/pl00014232. PMID: 8828631

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

See all (40)