Maternal hyperphenylalaninemia

Common Name(s)

Maternal hyperphenylalaninemia, Maternal PKU, Maternal BH4 deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Maternal hyperphenylalaninemia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Maternal hyperphenylalaninemia" returned 2 free, full-text research articles on human participants. First 3 results:

Maternal hyperphenylalaninemia: rapid achievement of metabolic control predicts overall control throughout pregnancy.
 

Author(s): Teresa Martino, Celide Koerner, Gayane Yenokyan, Julie Hoover-Fong, Ada Hamosh

Journal: Mol. Genet. Metab.. 2013 May;109(1):3-8.

 

Women with hyperphenylalaninemia are at risk of having offspring affected with the maternal phenylketonuria syndrome. Here we analyze the effect of the intervention of a nutritionist on plasma phenylalanine control in Maternal Hyperphenylalaninemia. We analyzed a retrospective cohort ...

Last Updated: 15 Apr 2013

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Protective effect of recombinant adeno-associated virus 2/8-mediated gene therapy from the maternal hyperphenylalaninemia in offsprings of a mouse model of phenylketonuria.
 

Author(s): Sung-Chul Jung, Joo-Won Park, Hyun-Jeong Oh, Jin-Ok Choi, Kyung-In Seo, Eun-Sook Park, Hae-Young Park

Journal: J. Korean Med. Sci.. 2008 Oct;23(5):877-83.

 

Phenylketonuria (PKU) is an autosomal recessively inherited metabolic disorder caused by a deficiency of phenylalanine hydroxylase (PAH). The accumulation of phenylalanine leads to severe mental and psychomotor retardation, and the fetus of an uncontrolled pregnant female patient ...

Last Updated: 28 Oct 2008

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Maternal hyperphenylalaninemia" returned 1 free, full-text review articles on human participants. First 3 results:

Maternal phenylketonuria and hyperphenylalaninemia in pregnancy: pregnancy complications and neonatal sequelae in untreated and treated pregnancies.
 

Author(s): Babette W Prick, Wim C J Hop, Johannes J Duvekot

Journal: Am. J. Clin. Nutr.. 2012 Feb;95(2):374-82.

 

Untreated maternal phenylketonuria or hyperphenylalaninemia may result in nonphenylketonuric offspring with neonatal sequelae, especially intellectual disability, microcephaly, and congenital heart disease (CHD). Dietary treatment to control phenylalanine concentrations can prevent these sequelae.

Last Updated: 23 Jan 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Observational Study on the Long Term Safety of KuvanĀ® Treatment in Patients With Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or BH4 Deficiency
 

Status: Recruiting

Condition Summary: Hyperphenylalaninemia (HPA) Due to Phenylketonuria (PKU) or Tetrahydrobiopterin (BH4) Deficiency

 

Last Updated: 24 May 2016

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