Maternal Phenylketonuria

A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)

Also Known As:

Networked: 84 relevant articles (5 outcomes, 11 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Phenylketonurias (Phenylketonuria)
2.	Congenital Heart Defects (Congenital Heart Defect)
3.	Microcephaly
4.	Intellectual Disability (Idiocy)
5.	Fetal Growth Retardation (Intrauterine Growth Retardation)

Experts

1.	Azen, Colleen: 5 articles (01/2014 - 12/2003)
2.	Koch, Richard: 4 articles (12/2008 - 12/2003)
3.	Rouse, Bobbye: 3 articles (02/2004 - 12/2003)
4.	Güttler, Flemming: 3 articles (12/2003 - 12/2003)
5.	Matalon, Reuben: 3 articles (12/2003 - 12/2003)
6.	de la Cruz, Felix: 3 articles (12/2003 - 12/2003)
7.	Kure, Shigeo: 2 articles (01/2021 - 10/2018)
8.	McBride, Kim L: 2 articles (01/2019 - 12/2012)
9.	Seagraves, Nikki J: 2 articles (01/2019 - 12/2012)
10.	Yano, Shoji: 2 articles (05/2014 - 01/2014)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Maternal Phenylketonuria:

1.	Phenylalanine (L-Phenylalanine)FDA Link 12/01/2003 - "The purpose of this report is to review the obstetric medical, psychological, and nutritional aspects and outcome of the women and offspring enrolled in the Maternal Phenylketonuria Study, which was established to assess the efficacy of a phenylalanine (Phe)-restricted diet in preventing the morbidity associated with this disorder. " 02/01/2000 - "The purpose of this report was to update the results of the Maternal Phenylketonuria Collaborative Study, which was established to assess the efficacy of a phenylalanine-restricted diet in preventing morbidity among the offspring of women with hyperphenylalaninemia. " 07/01/1996 - "The International Maternal Phenylketonuria (PKU) Collaborative Study commenced in 1984 to evaluate the efficacy of the low-phenylalanine diet in reducing the morbidity associated with maternal PKU syndrome. " 02/01/2004 - "The Maternal Phenylketonuria Study was designed to determine the effect of a phenylalanine (Phe)-restricted diet in reducing the morbidity on the fetus. " 04/01/2001 - "Intake of major nutrients by women in the Maternal Phenylketonuria (MPKU) Study and effects on plasma phenylalanine concentrations."
2.	sapropterin (tetrahydrobiopterin)FDA Link 01/01/2021 - "Although there are reports that sapropterin hydrochloride is effective and safe for the prevention of maternal phenylketonuria, further investigation is required." 12/01/2019 - "First Japanese case of maternal phenylketonuria treated with sapropterin dihydrochloride and the normal growth and development of the child." 10/01/2018 - "Successful control of maternal phenylketonuria by tetrahydrobiopterin." 10/01/2014 - "A new case of maternal phenylketonuria treated with sapropterin dihydrochloride (6R-BH4)." 09/01/2014 - "Use of sapropterin dihydrochloride in maternal phenylketonuria. "
3.	Tyrosine (L-Tyrosine)FDA Link 01/01/1996 - "Brush border and basal plasma membrane vesicles prepared from normal human placental syncytiotrophoblast have been used to study L-tyrosine transport across placenta in an attempt to investigate the aetiology of the fetal damage found in maternal phenylketonuria. " 03/01/1998 - "Tyrosine supplementation in the treatment of maternal phenylketonuria." 03/01/1998 - "Historical perspective: tyrosine and maternal phenylketonuria, welcome news." 01/01/1996 - "Placental tyrosine transport and maternal phenylketonuria." 01/01/2019 - "Maternal phenylketonuria (MPKU) requires strict control of phenylalanine (Phe) and supplemental tyrosine (Tyr). "
4.	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 12/01/2003 - "Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome." 08/01/1999 - "To examine the relationship of phenylalanine hydroxylase (PAH) genotypes to biochemical phenotype and cognitive development in maternal phenylketonuria (PKU). " 05/01/1991 - "Maternal phenylketonuria syndrome in cousins caused by mild, unrecognized phenylketonuria in their mothers homozygous for the phenylalanine hydroxylase Arg-261-Gln mutation." 01/01/1999 - "Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)" 01/01/2023 - "Elevated serum phenylalanine (Phe) levels due to biallelic pathogenic variants in phenylalanine hydroxylase (PAH) may cause neurodevelopmental disorders or birth defects from maternal phenylketonuria. "
5.	Amino AcidsFDA Link 04/01/1999 - "Effects of dietary mixtures of amino acids on fetal growth and maternal and fetal amino acid pools in experimental maternal phenylketonuria." 01/01/1990 - "Transport of amino acids across the blood-brain barrier: implications for treatment of maternal phenylketonuria." 03/01/1972 - "Amniotic fluid amino acids in maternal phenylketonuria." 09/01/1971 - "Developmental changes in amino acid concentrations in human amniotic fluid: abnormal findings in maternal phenylketonuria." 04/05/2005 - "Phenylketonuria is an inborn error of amino acid metabolism which can cause severe damage to the patient or, in the case of maternal phenylketonuria, to the foetus. "
6.	Proteins (Proteins, Gene)FDA Link 07/01/1996 - "In addition to plasma Phe control in maternal phenylketonuria (PKU), maternal weight gain and dietary intake of protein, energy and fat were correlated with outcome. " 01/01/1986 - "Effects of phenylalanine loading on protein synthesis in the fetal heart and brain of rat: an experimental approach to maternal phenylketonuria." 01/01/1988 - "Successful treatment of maternal phenylketonuria with a formula consisting of low phenylalanine peptide as a protein source."
7.	TeratogensIBA 03/01/1996 - "Maternal phenylketonuria: a metabolic teratogen." 12/01/1983 - "The major teratogens include irradiation, maternal infections, other illnesses in pregnancy (diabetes, thyroid disease, maternal phenylketonuria, virilizing diseases), a host of pharmacologic agents and environmental contaminants. "
8.	Glycoproteins (Glycoprotein)IBA 01/01/1990 - "Carbohydrate and glycoprotein metabolism; maternal phenylketonuria. " 11/01/1985 - "The incorporation of D-[U-14C]glucosamine into N-acetylneuraminic acid bound to glycoproteins was appreciably diminished in the rat pup previously exposed to maternal phenylketonuria induced by phenyl acetate. "
9.	Fatty Acids (Saturated Fatty Acids)IBA 01/01/1994 - "Fatty acid supplementation in a case of maternal phenylketonuria." 06/01/2010 - "Three categories of metabolic disorders will be discussed: the "intoxication type" (classical galactosemia, ornithine transcarbamylase deficiency, and "maternal phenylketonuria"), the "storage type" (Morbus Niemann Pick type C), and the "energy deficient type" (including long-chain fatty acid oxidation disorders, pyruvate dehydrogenase deficiency, and respiratory chain defects). "
10.	Branched-Chain Amino AcidsIBA 06/01/1989 - "Branched chain amino acids improve complex maze learning in rat offspring prenatally exposed to hyperphenylalaninemia: implications for maternal phenylketonuria." 04/01/1999 - "Branched-chain amino acids have been reported to improve fetal brain development in a rat model in which maternal phenylketonuria (PKU) is induced by the inclusion of an inhibitor of phenylalanine hydroxylase, DL-p-chlorophenylalanine, and L-phenylalanine in the diet. "

Therapies and Procedures

1.	Therapeutics 09/01/2009 - "Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria." 03/01/1987 - "It is likely that fetal damage from maternal phenylketonuria can be largely and perhaps entirely prevented by dietary therapy, but therapy must begin before conception for the best chance of a normal infant." 03/01/1982 - "Maternal phenylketonuria--results of dietary therapy." 09/01/2009 - "Studies using phenylketonuria model mice will be important in determining the ability of our therapy to prevent the teratogenic effects of elevated maternal Phe in maternal phenylketonuria." 01/01/1990 - "The Maternal Phenylketonuria Collaborative Study (MPKUCS), encompassing all the United States and provinces of Canada, is a prospective, longitudinal investigation designed to ascertain the efficacy of phenylalanine-restricted therapy in protecting the fetus from high maternal phenylalanine concentrations in women with hyperphenylalaninaemia. "
2.	Nutritional Support (Artificial Feeding) 01/01/2020 - ": Nutritional support during pregnancy is of great interest focusing not only to common pregnancies but also to those with low socioeconomic status, vegan-vegetarian groups, and pregnant women with metabolic disorders, the most known maternal phenylketonuria. "
3.	Prenatal Care (Care, Prenatal) 10/01/2002 - "Maternal phenylketonuria (MPKU) is an increasingly common concern for health professionals involved in prenatal care. "
4.	Diet Therapy (Therapy, Diet) 01/01/1990 - "Intensive case management may provide a preventive approach to the current "crisis" in the management of maternal phenylketonuria, as well as facilitate ongoing diet therapy during adolescence and adulthood."
5.	Ambulatory Care (Outpatient Care) 08/01/1980 - "Maternal phenylketonuria requires earlier diagnosis than can be achieved at the initial antenatal clinic visit if its teratogenic effects are to be prevented."