Phenylketonurias (Phenylketonuria)

1773  relevant articles (29 outcomes, 136 trials/studies) found for this Disease

Phenylketonuria; Classical Phenylketonuria; Deficiency Disease, Phenylalanine Hydroxylase; Folling Disease; Hyperphenylalaninaemia; Hyperphenylalaninaemias; Phenylalanine Hydroxylase Deficiency Disease; Deficiency Disease, Dihydropteridine Reductase; Deficiency Disease, Phenylalanine Hydroxylase, Severe; Folling's Disease; Phenylalanine Hydroxylase Deficiency Disease, Severe; Phenylketonuria I; Phenylketonuria II; Phenylketonuria, Atypical; Phenylketonuria, Classical; Atypical Phenylketonuria; Atypical Phenylketonurias; Classical Phenylketonurias; Disease, Folling; Disease, Folling's; Diseases, Folling; Folling Diseases; Hyperphenylalaninemia, Non Phenylketonuric; Hyperphenylalaninemias, Non-Phenylketonuric; IIs, Phenylketonuria; Is, Phenylketonuria; Non-Phenylketonuric Hyperphenylalaninemia; Non-Phenylketonuric Hyperphenylalaninemias; Phenylketonuria IIs; Phenylketonuria Is; Phenylketonurias, Atypical; Phenylketonurias, Classical; Dihydropteridine Reductase Deficiency Disease; Hyperphenylalaninemia, Non-Phenylketonuric

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Phenylketonurias (Phenylketonuria)
2.	Congenital Hypothyroidism (Cretinism)
3.	Metabolic Diseases (Metabolic Disease)
4.	Maternal Phenylketonuria
5.	Mental Retardation (Idiocy)

Experts

1.	Koch, R: 8 articles (01/2003 - 02/2000)
2.	Blau, Nenad: 7 articles (06/2007 - 01/2003)
3.	Matalon, Reuben: 7 articles (06/2007 - 12/2003)
4.	Stevens, Raymond C: 6 articles (08/2007 - 12/2003)
5.	Schulpis, Kleopatra H: 6 articles (10/2005 - 06/2002)
6.	Weglage, J: 6 articles (01/2005 - 10/2000)
7.	Gámez, Alejandra: 5 articles (08/2007 - 11/2004)
8.	Tyring, Stephen K: 5 articles (06/2007 - 12/2003)
9.	Tsakiris, Stylianos: 5 articles (10/2005 - 06/2002)
10.	Surendran, Sankar: 5 articles (07/2005 - 12/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Phenylketonurias:

1.	Phenylalanine (L-Phenylalanine)FDA Link 01/01/1993 - "Inclusion of pteridine data in the discriminant analysis significantly improved the resolution of the classical phenylalanine loading test for the detection of heterozygotes for phenylketonuria." 12/01/2002 - "Dietary restriction of phenylalanine is the main treatment for phenylketonuria (PKU), and current estimates of requirements are based on plasma phenylalanine concentration and growth. " 01/11/1980 - "The children with phenylketonuria were treated with low-phenylalanine diets and have shown improvement in functioning and developmental level since treatment. " 12/01/2008 - "A randomised controlled trial is required to examine the effect of trying the low-phenylalanine diet for people with untreated phenylketonuria." 01/01/2008 - " with phenylketonuria were eligible to participate if they were > or =8 years of age and had received > or =80% of the scheduled doses in a previous 6-week, randomized, placebo-controlled study or had been withdrawn from that study after exceeding a plasma phenylalanine concentration of > or =1500 micromol/L to > or =1800 micromol/L, depending on the subject's age and baseline plasma phenylalanine concentration. " Order ALL the reference details at left...
2.	5,6,7,8-tetrahydrobiopterin (tetrahydrobiopterin)FDA Link 01/01/2009 - "Use of tetrahydrobiopterin is a new, alternative treatment method, effective in some phenylketonuria-patients. " 11/15/2008 - "Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria." 12/26/2002 - "Conversely, none of the seven patients with classic phenylketonuria had a response to tetrahydrobiopterin as defined in this study. " 06/01/2009 - "Defects in the metabolism or regeneration of tetrahydrobiopterin (BH4) were initially discovered in patients with hyperphenylalaninaemia who had progressive neurological deterioration despite optimal metabolic control (malignant hyperphenylalaninaemia). " 02/01/2009 - "BACKGROUND: Tetrahydrobiopterin (BH(4)) is a potential new orphan drug for the treatment of some patients with phenylketonuria (PKU), mostly mild forms. " Order ALL the reference details at left...
3.	Tyrosine (L-Tyrosine)FDA Link 09/01/2001 - "Tyrosine supplementation has not consistently been found to improve neuropsychologic function in phenylketonuria (PKU), possibly because of failure to achieve adequate levels of tyrosine in the brain. " 02/01/1998 - "OBJECTIVE: To test the efficacy of tyrosine supplementation, as an adjunct to dietary treatment, on neuropsychological test performance in individuals with phenylketonuria. " 02/01/1998 - "Randomised controlled trial of tyrosine supplementation on neuropsychological performance in phenylketonuria." 06/01/1957 - "Biochemical and pharmacological studies on o-tyrosine and its meta and para analogues; a suggestion concerning phenylketonuria." 01/01/2009 - "Tyrosine supplements for ADHD symptoms with comorbid phenylketonuria." Order ALL the reference details at left...
4.	Amino AcidsFDA Link 04/01/2009 - "Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids." 01/01/2009 - "The phenylketonuria (PKU)/hyperphenylalaninemia (HPA) it is the most frequent inborn genetically conditioned error of metabolism of amino acids. " 07/25/2002 - "Rapid diagnosis of phenylketonuria and other aminoacidemias by quantitative analysis of amino acids in neonatal blood spots by gas chromatography-mass spectrometry." 09/01/1998 - "These data support those of the Medical Research Council Working Party on Phenylketonuria for 3 g/kg per day of amino acids from medical food." 02/01/1998 - "Multivariate discrimination for phenylketonuria (PKU) and non-PKU hyperphenylalaninemia after analysis of newborns' dried blood-spot specimens for six amino acids by ion-exchange chromatography." Order ALL the reference details at left...
5.	BiopterinIBA 01/01/1986 - "Natural protein loading studies with uniform Phe equivalents are simple, and they are an inexpensive and safe way to determine or categorize the types of hyperphenylalaninaemias (excluding defects of biopterin). " 08/01/1989 - "Urinary biopterin has been found to be decreased in parkinsonian patients, and in hyperphenylalanemia as a variant of phenylketonuria. " 02/01/1986 - "In children without hyperphenylalaninaemia plasma biopterin concentrations were normal. " 01/01/1985 - "Hyperphenylalaninaemia caused by defects in biopterin metabolism." 01/01/1983 - "A defective enzyme in hyperphenylalaninaemia due to biopterin deficiency." Order ALL the reference details at left...
6.	Phenylalanine Hydroxylase (Phenylalanine 4 Monooxygenase)IBA 01/01/2008 - "OBJECTIVES: The aim of this study is to assess the prevalence of six common mutations in the Mediterranean basin and Turkey among a large group of Egyptian PKU cases BACKGROUND: Phenylketonuria (PKU) is one of the most common inborn errors of amino acid metabolism that is caused by deficiency of hepatic phenylalanine hydroxylase (PAH). " 12/01/2003 - "Structural studies on phenylalanine hydroxylase and implications toward understanding and treating phenylketonuria." 12/01/2003 - "OBJECTIVE: The aim of the present study was to examine to what extent maternal and offspring phenylalanine hydroxylase (PAH) genotypes in conjunction with maternal IQ and dietary control during pregnancy are related to cognitive development in offspring of women with phenylketonuria (PKU). " 04/01/2003 - "OBJECTIVE: To study the molecular basis of the phenylalanine hydroxylase (PAH) gene mutation in Chinese patients with phenylketonuria (PKU). " 01/01/2001 - "In the present study we report on the identification of ten novel mutations in the phenylalanine hydroxylase (PAH) gene of Brazilian patients with phenylketonuria (PKU): IVS5-54A>G, IVS6+17G>T, E205A, F240S, K274E, I318T, L321L, C357G, IVS11+17G>A and S411X. " Order ALL the reference details at left...
7.	Neurotransmitter Agents (Neurotransmitter)IBA 01/01/2007 - "This study aimed to enhance our understanding of neuropsychological functioning in children with early-treated phenylketonuria (PKU) and assess the relative impact of white matter abnormalities (WMA) and neurotransmitter deficiencies on cognitive functions in this population. " 07/01/1996 - "Neurotransmitter positron emission tomographic-studies in adults with phenylketonuria, a pilot study." 01/01/2009 - "However, autosomal dominant GTPCH deficiency and autosomal recessive SR deficiency leads to BH4 and neurotransmitter deficiency without HPA and may not be detected by neonatal screening for phenylketonuria. " 11/16/2004 - "[Pathogenetic mechanisms in phenylketonuria: disorders affecting the metabolism of neurotransmitters and the antioxidant system]" 09/11/2001 - "Treatable neurotransmitter deficiency in mild phenylketonuria." Order ALL the reference details at left...
8.	alpha-methylphenylalanineIBA 01/01/1981 - "Use of alpha-methylphenylalanine for studies of brain development in experimental phenylketonuria." 01/01/1986 - "The influence of alpha-methylphenylalanine-induced hyperphenylalaninaemia (HYP) on the lysosomal protein degradation system in brain and liver of suckling rats was investigated. " 01/17/1980 - "The model utilizing alpha-methylphenylalanine was relatively free from nonspecific effects and thus, changes observed in the animals were attributable to experimental phenylketonuria. " 04/01/1990 - "The present study was designed to provide further information on the enduring cognitive effects of experimental phenylketonuria (PKU) in rats, produced by the administration of alpha-methylphenylalanine and phenylalanine on postnatal days 3-21. " 06/01/1988 - "Supplementation of 5% phenylalanine plus 0.4% alpha-methylphenylalanine to the standard diet or 1% phenylalanine plus 0.08% alpha-methylphenylalanine to the drinking water produced phenylketonuria-like conditions in 5-day-old chicks. " Order ALL the reference details at left...
9.	DNA (Deoxyribonucleic Acid)IBA 06/01/2004 - "METHODS: The samples from 127 patients with phenylketonuria(PKU) were studied by polymerase chain reaction(PCR)-single strand conformation polymorphism(SSCP) PCR-denaturing gradient gel electrophoresis(DGGE) and direct DNA sequencing. " 03/01/2002 - "Our data indicate that the 3.7-kb deletion uncovered in the genomic DNA of the phenylketonuria proband is linked to the observed phenylketonuria phenotype as a result of a deletion of the newly identified liver-specific enhancer. " 10/01/2000 - "DNA was extracted from serum collected during routine newborn screening for phenylketonuria and hypothyreosis. " 05/01/1998 - "[Molecular pathology and DNA diagnosis of phenylketonuria and hypermethioninemia]" 01/01/1996 - "We have analysed 236 Norwegian phenylketonuria (PKU) alleles by a combination of mutation scanning methods, restriction enzyme-based assays and DNA sequencing. " Order ALL the reference details at left...
10.	Dopamine (Intropin)FDA LinkGeneric 09/01/2007 - "The work discussed here builds on that including: 1) Studies of children predicted to have lower levels of prefrontal dopamine but otherwise basically normal brains (children treated for phenylketonuria [PKU]). " 04/01/2008 - "Reduced cerebral fluoro-L-dopamine uptake in adult patients suffering from phenylketonuria." 07/01/1996 - "The results raise the question if adult patients with phenylketonuria really suffer from functional dopamine deficiency." 04/01/1992 - "Children with early treated phenylketonuria (ETPKU), a disorder associated with developmental dopamine depletion, were tested with a visual orienting paradigm to determine the existence of lateralized deficits in specific attentional operations. " 12/01/2000 - "Prolactin, a marker for cerebral dopamine deficiency in patients suffering from phenylketonuria (PKU)?" Order ALL the reference details at left...

Therapies and Procedures

1.	Therapeutics 01/01/2008 - "With the realization in 1953 that the sentinel disease, phenylketonuria, can be effectively treated by nutritional manipulation tailored to the needs of each individual, we have essentially entered a new phase in metabolic medicine, namely that of nutritional therapeutics. " Order ALL the reference details at left...
2.	Seat Belts (Seat Belt) 01/16/2003 - "DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. " Order ALL the reference details at left...
3.	Prenatal Care 01/16/2003 - "DEVELOPMENT: In spite of the fact that in the majority of cases of mental retardation the etiology is unknown, and for that reason, in them it is not possible to establish preventive strategies, within the last three decades, important research advances have helped to prevent thousands of cases of mental retardation of illnesses caused by Haemophilus influenzae B, measles encephalitis, Rh disease and severe jaundice in newborn infants, congenital hypothyroidism, phenylketonuria and congenital rubella; as well as removing lead from the environment, intervention programs for the proper use of seat belts, child safety seats, and motorcycle and bicycle helmets; early and adequate prenatal care, dietary supplementation with folic acid beginning before conception to reduce the risk of neural tube defects, avoidance of toxic substances during pregnancy like alcohol, and the use of newborn screening tests. " Order ALL the reference details at left...
4.	Nursing Care 04/01/2001 - "The authors analyze 1, the biochemical alterations which are produced in the organism and which cause the appearance of them; 2, the genetics involved; 3, the clinical manifestations shown by those who suffer from pku; 4, the diagnosis of this disease; 5, the number of cases in the general public; 6, a bit more extensive section dealing with the nutritional treatment, follow-up and control of this disease; 7, nursing care, fundamentally based on how to educate and counsel patients and their families regarding control methods and problems which commonly occur in dietetic treatment over the course of the various phases in one's life; and 8, the conclusions of this study, whose origin came after intensive contact with the Galician Association of Phenylketonuria and a study of the epidemiological and nutritional situation of sufferers of this disease in Galicia. " Order ALL the reference details at left...
5.	Diet Therapy (Therapy, Diet) 10/15/2004 - "Up to 10% of adults with classic phenylketonuria, and possibly 50% of those with milder variants, may not need treatment; after adolescence, intelligence does not appear to deteriorate, at least into early adulthood, even if diet therapy is discontinued or not in good control. " 01/15/1999 - "[An adult patient with phenylketonuria before and one year after reinstitution of diet therapy]" 01/01/1998 - "[Comparative study of special products "Tetraphen" and "Phenyl-free" in diet therapy of children with phenylketonuria]" 07/01/1996 - "This case prompted us to survey 37 adolescent and young adult phenylketonuria patients in our clinic -28 were on diet therapy, 9 were off (age 11-35 years, mean 21.6 years, 17 males, 20 females). " 02/01/1993 - "[Diet therapy in phenylketonuria]" Order ALL the reference details at left...