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Maternal hyperphenylalaninemia

MedGen UID:
867625
Concept ID:
C4022014
Finding
Synonym: High blood phenylalanine level in mother
 
HPO: HP:0100610

Definition

A medical history of exposure during the fetal period to hyperphenylalaninemia because the mother had phenylketonuria with inadequate control during pregnancy. [from HPO]

Conditions with this feature

Phenylketonuria
MedGen UID:
19244
Concept ID:
C0031485
Disease or Syndrome
Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the essential amino acid phenylalanine and produces a spectrum of disorders. The risk of adverse outcome varies based on the degree of PAH deficiency. Without effective therapy, most individuals with severe PAH deficiency, known as classic PKU, develop profound and irreversible intellectual disability. Affected individuals on an unrestricted diet who have phenylalanine levels above normal but below 1,200 µmol/L (20 mg/dL) are at much lower risk for impaired cognitive development in the absence of treatment.

Professional guidelines

PubMed

Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J, Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T
Bratisl Lek Listy 2004;105(9):291-8. PMID: 15633889

Recent clinical studies

Etiology

Obstet Gynecol 2020 Apr;135(4):e167-e170. doi: 10.1097/AOG.0000000000003768. PMID: 32217978
Obstet Gynecol 2020 Apr;135(4):987-988. doi: 10.1097/AOG.0000000000003769. PMID: 32217972
Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A
Mol Genet Metab 2013 May;109(1):3-8. Epub 2013 Feb 19 doi: 10.1016/j.ymgme.2013.02.009. PMID: 23537842Free PMC Article
Spero DA, Yu MC
Exp Neurol 1983 Mar;79(3):641-54. doi: 10.1016/0014-4886(83)90029-8. PMID: 6186515
Hansen H
J Pediatr 1973 Sep;83(3):506-7. doi: 10.1016/s0022-3476(73)80292-6. PMID: 4725160

Diagnosis

Corsello G, Cicero L, Giuffrè M, La Grutta S, Piccione M, Pusateri F, Ciaccio M, Roccella M
Minerva Pediatr 2006 Dec;58(6):557-69. PMID: 17093378
Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J, Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T
Bratisl Lek Listy 2004;105(9):291-8. PMID: 15633889
Cartier L, Clow CL, Lippman-Hand A, Morissette J, Scriver CR
Am J Public Health 1982 Dec;72(12):1386-90. doi: 10.2105/ajph.72.12.1386. PMID: 7137436Free PMC Article

Therapy

Platt LD, Koch R, Hanley WB, Levy HL, Matalon R, Rouse B, Trefz F, de la Cruz F, Güttler F, Azen C, Friedman EG
Am J Obstet Gynecol 2000 Feb;182(2):326-33. doi: 10.1016/s0002-9378(00)70219-5. PMID: 10694332
Copenhaver JH, Vacanti JP, Carver MJ
J Neurochem 1973 Aug;21(2):273-80. doi: 10.1111/j.1471-4159.1973.tb04248.x. PMID: 4269294

Prognosis

Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A
Mol Genet Metab 2013 May;109(1):3-8. Epub 2013 Feb 19 doi: 10.1016/j.ymgme.2013.02.009. PMID: 23537842Free PMC Article
Hyanek J, Kozak L, Hrabincova E, Trnka V, Kobilkova J, Dolezal A, Soukup K, Zeman J, Stastna S, Vadurova L, Krijt J, Viletova H, Cervena M, Paterova T
Bratisl Lek Listy 2004;105(9):291-8. PMID: 15633889
Ghavami M, Levy HL, Erbe RW
Clin Obstet Gynecol 1986 Sep;29(3):580-5. PMID: 3757336
Cartier L, Clow CL, Lippman-Hand A, Morissette J, Scriver CR
Am J Public Health 1982 Dec;72(12):1386-90. doi: 10.2105/ajph.72.12.1386. PMID: 7137436Free PMC Article

Clinical prediction guides

Martino T, Koerner C, Yenokyan G, Hoover-Fong J, Hamosh A
Mol Genet Metab 2013 May;109(1):3-8. Epub 2013 Feb 19 doi: 10.1016/j.ymgme.2013.02.009. PMID: 23537842Free PMC Article
Jung SC, Park JW, Oh HJ, Choi JO, Seo KI, Park ES, Park HY
J Korean Med Sci 2008 Oct;23(5):877-83. doi: 10.3346/jkms.2008.23.5.877. PMID: 18955797Free PMC Article
Martinez-Cruz F, Pozo D, Osuna C, Espinar A, Marchante C, Guerrero JM
J Neurosci Res 2002 Aug 15;69(4):550-8. doi: 10.1002/jnr.10307. PMID: 12210848
Cartier L, Clow CL, Lippman-Hand A, Morissette J, Scriver CR
Am J Public Health 1982 Dec;72(12):1386-90. doi: 10.2105/ajph.72.12.1386. PMID: 7137436Free PMC Article

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