Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes can vary from a very mild increase in blood phenylalanine concentrations to a severe classic phenotype with pronounced hyperphenylalaninaemia, which, if untreated, results in profound and irreversible mental disability. Neonatal screening programmes identify individuals with phenylketonuria. The initiation of a phenylalanine-restricted diet very soon after birth prevents most of the neuropsychological complications. However, the diet is difficult to maintain and compliance is often poor, especially in adolescents, young adults, and pregnant women. Tetrahydrobiopterin stimulates phenylalanine hydroxylase activity in about 20% of patients, and in those patients serves as a useful adjunct to the phenylalanine-restricted diet because it increases phenylalanine tolerance and allows some dietary freedom. Possible future treatments ...
Hyperphenylalaninemia is a medical condition characterized by mildly or strongly elevated concentrations of the amino acid phenylalanine in the blood. Phenylketonuria (PKU) can result in severe hyperphenylalaninemia. Phenylalanine concentrations ([phe]) are routinely screened in newborns by the neonatal heel prick (Guthrie test), which takes a few drops of blood from the heel of the infant. Standard [phe] concentrations in unaffected persons are about 60µM: [phe] concentrations in persons with untreated phenylketonuria may be many times that (600µM to 2400µM), which indicate that the child is at risk for severe intellectual disability. Phenylketonuria is classed as an autosomal recessive condition: in heterozygous form, [phe] shows a moderate elevation, perhaps two-fold over that of unaffected homozygotes, which is classified as hyperphenylalaninemia (hyper- + phenylalanine + -emia = high [phe] in blood). The coloration of the skin, hair, and eyes is different in children with PKU. This is ...
Rigorous control of diet is typically advocated in children 4 years and under with PKU because brain sensitivity to high Phe concentrations is expected to be greatest during these years of rapid neurocognitive development.. Prolonged high blood Phe concentrations are neurotoxic and lead to impairment of intelligence and other brain functions (such as attentiveness). Reduction of blood Phe concentrations through dietary control is an important determinant of long-term neurologic outcome in PKU patients, and reduction of blood Phe concentrations in patients with PKU has been shown to decrease the long term risk of neurologic injury.. It is difficult for many patients to maintain reduced blood Phe, and many patients with PKU experience some degree of neurological impairment despite efforts to maintain dietary Phe control.. The strongest determinant of intelligence quotient (IQ) and cognitive function is compliance with blood Phe control. Several clinical studies with Kuvan have already demonstrated ...
PKU is an autosomal recessive trait caused by the absence of phenylalanine hydroxylase. Phenylalanine hydroxylase is an enzyme involved in the metabolism of phenylalanine (Phe). When phenylalanine hydroxylase is absent or defective, Phe levels rise and toxic Phe metabolites accumulate, causing central nervous system injury. PKU is a treatable disease. Affected individuals must adhere to a diet low in Phe during childhood. Women with PKU should also adhere to a low Phe diet before and during pregnancy to avoid fetal damage. The offspring of women with untreated maternal hyperphenylalaninemia (HPA) usually exhibit mental retardation, microcephaly, growth retardation, and other congenital anomalies. This study will examine the effect of a restricted Phe diet on reproductive outcome in women with maternal HPA.. Participants in this study will be women with HPA whose blood Phe values are persistently greater than 4 mg/dl. Those women with blood Phe values consistently greater than 8 mg/dl will be ...
Phenylketonuria (PKU) Global Clinical Trials Review, H1, 2016" provides an overview of Phenylketonuria (PKU) clinical trials scenario. This report provides top line data relating to the clinical trials on Phenylketonuria (PKU). Report includes an overview of trial numbers and their average enrollment in top countries conducted across the globe. The report offers coverage of disease clinical trials by region, country (G7 & E7), phase, trial status, end points status and sponsor type. Report also provides prominent drugs for in-progress trials (based on number of ongoing trials). GlobalData Clinical Trial Reports are generated using GlobalDatas proprietary database - Pharma eTrack Clinical trials database. Clinical trials are collated from 80+ different clinical trial registries, conferences, journals, news etc across the globe. Clinical trials database undergoes periodic update by dynamic process.. The report enhances the decision making capabilities and helps to create an effective counter ...
TY - JOUR. T1 - Complete correction of hyperphenylalaninemia following liver-directed, recombinant AAV2/8 vector-mediated gene therapy in murine phenylketonuria. AU - Harding, Cary. AU - Gillingham, Melanie. AU - Hamman, Kelly. AU - Clark, H.. AU - Goebel-Daghighi, E.. AU - Bird, A.. AU - Koeberl, D. D.. PY - 2006/3. Y1 - 2006/3. N2 - Novel recombinant adeno-associated virus vectors pseudotyped with serotype 8 capsid (rAAV/8) have recently shown exciting promise as effective liver-directed gene transfer reagents. We have produced a novel liver-specific rAAV2/8 vector expressing the mouse phenylalanine hydroxylase (Pah) cDNA and have administered this vector to hyperphenylalaninemic PAH-deficient Pahenu2 mice, a model of human phenylketonuria (PKU). Our hypothesis was that this vector would produce sufficient hepatocyte transduction frequency and PAH activity to correct blood phenylalanine levels in murine PKU. Portal vein injection of recombinant AAV2/8 vector into five adult Pahenu2 mice ...
TY - JOUR. T1 - Expression of phenylalanine hydroxylase (PAH) in erythrogenic bone marrow does not correct hyperphenylalaninemia in Pahenu2 mice. AU - Harding, Cary. AU - Neff, Mark. AU - Jones, Kelly. AU - Wild, Krzysztof. AU - Wolff, Jon A.. PY - 2003/11. Y1 - 2003/11. N2 - Background: Treatment of many inherited liver enzyme deficiencies requires the removal of toxic intermediate metabolites from the blood of affected individuals. We propose that circulating toxins can be adequately cleared and disease phenotype influenced by enzyme expressed in tissues other than the liver, such as bone marrow. Our specific hypothesis was that phenylalanine hydroxylase (PAH) expressed in bone marrow would lower blood phenylalanine levels in hyperphenylalaninemic Pahenu2 mice, a model of human phenylketonuria (PKU). Methods: Germline-modified marrow PAH-expressing mice were developed using a transgene that contained the mouse liver PAH cDNA under the transcriptional control of a human β-globin promoter. ...
Until today, the mainstay of phenylketonuria (PKU) treatment is a phenylalanine (Phe)-restricted diet. Strict dietary treatment decreases flexibility and autonomy and still has a major impact on patients and their families. Compliance is often poor, particularly in adolescence. The aim of this study was to investigate the effect of the intake of fruits and vegetables containing Phe less than 100 mg/100g (simplified diet), as recommended by WHO for all individuals, instead of classical totally restricted diet on the course and treatment control of the disease in a well-characterized PKU cohort (n=80). All individual blood Phe measurements of each patient (1992-2009) were statistically analyzed before and after diet switch. Epidemiological data, age at diagnosis, PAH mutations, BH(4) responsiveness, as well as Phe control measurements and detailed diet information were tabulated in a local database. 62.5% had BH4 loading test and 40% had PAH analysis; 50/80 switched from classical to simplified ...
Phenylketonuria or PKU has an important place in medical history as the first congenital metabolic disorder. It is a genetic defect in the phenylalanine hydroxylase enzyme existing in the liver and kidneys which is responsible for the conversion of phenylalanine to tyrosine. Deficiency of the enzyme results in accumulation of phenylalanine and its metabolites in the blood and other tissues. If left untreated, mental retardation, speech delays, eczema, seizures, behavioral abnormalities, etc would be expected. In PKU, proper nutrition is the only treatment of choice to prevent complications. The treatment is based on a low-protein diet, and elimination of all protein-rich foods to prevent severe mental retardation. Dietary changes in PKU are permanent through the life. By controlling the diet, we reach disease control too. The metabolic control in childhood and adolescence is related to patients quality of life, and their mental status. Even in patients who resume treatment after a period of free diet,
University of Washington Abstract Gut Microbial Community in Infants and Toddlers with and without Phenylketonuria (PKU) Melissa Jane Edwards Chair of the Supervisory Committee: Professor Johanna W. Lampe Nutrition Background: Prebiotics are non-digestible food components that selectively stimulate the growth and/or activity of beneficial bacteria in the colon and contribute to improved human health. Infants and young children with inborn errors of metabolism (IEM), such as phenylketonuria (PKU) consume low amounts of dietary sources of prebiotics because of their comprehensive dietary restriction of phenylalanine-containing foods. It is unknown if the amount of prebiotics that patients with PKU consume provides adequate substrate to support a beneficial gut microbial community (GMC). The GMC is involved in many aspects of human health, including providing a barrier for colonization of pathogens, contributing to energy salvage and regulation, and modulating immune function. Methods: We conducted ...
Phenylketonuria (PKU) - Pipeline Review, H1 2017 Summary Phenylketonuria (also called PKU), is a rare inherited disorder that causes an amino acid c
Patient with phenylketonuria may present with phenylketone in the urine and musty urine odor. Besides that patient may also present with other symptoms and signs of phenylketonuria such as eczema, hypertonia, mental retardation, growth failure, heavy p
Reports of parkinsonism in phenylketonuria are exceedingly rare. We report on a patient who had received a delayed diagnosis of phenylketonuria as an infant and subsequently developed levodopa-responsive parkinsonism at the age of 33. Single-photon emission computed tomography (SPECT) using (123)I-FP-CIT ([(123))I]-2 beta-carbomethoxy-3beta-(-4-iodophenyl)-N-(3-fluoropropyl)-nortropane) used to measure dopamine transporter levels on two occasions, 7 and 9 years after the onset of neurological symptoms, were normal. Iodine-123-iodo-lisuride SPECT (IBZM) imaging, however, showed reduced caudate over putamen binding. This combination of imaging findings indicates a possible upregulation of postsynaptic D2 receptors in the context of intact presynaptic dopamine nerve terminal density.
List of words make out of Phenylketonuric. Anagrams and Words made out of Phenylketonuric. Find Scrabble Point of Phenylketonuric. Definition of Phenylketonuric. Puzzle Solver.
Background: Although early diagnosis and treatment in phenylketonuria (PKU) leads to excellent outcomes, a population of adults born before the introduction of newborn screening exists. They can have severe intellectual disabilities and behavioural problems, and are often dependent on full-time carers. Anecdotal evidence suggests that a diet that lowers blood phenylalanine concentration can have significant benefits upon behaviour.. Methods: A prospective double-blind randomised placebo-controlled crossover trial of phenylalanine-restricted diet was performed in a group of 34 adults (aged 21-61 years, median 49) with late diagnosed PKU with severe challenging behaviour.. Results: Only 17 completed the 60 week study: seven withdrew before the end of the baseline period; five withdrew during the first diet period; five withdrew during the second diet period (after moving into placebo phase). The mean (SD) blood phenylalanine was 1570 (222) μmol/l during baseline, 553(158) μmol/l during the ...
The main phenylketonuria treatment is a strict diet with very limited intake of phenylalanine, which is mostly found in foods containing protein. Doctors used to believe it was OK for a person with PKU to stop the diet in adolescence, but today, doctors recommend sticking to the diet and PKU formula for life. Without PKU formula, your body cant get enough of essential nutrients called amino acids that are crucial for growth and general health. For example, the amino acid tyrosine is usually a byproduct of phenylalanine metabolism, a process that doesnt occur in people with PKU.. A safe amount of phenylalanine differs for each person. Your doctor will determine a safe amount through regular review of diet records, growth charts and blood levels of phenylalanine. Frequent blood tests will monitor PKU levels as they change over time, especially during childhood growth spurts and pregnancy. In general, the idea is to consume only the amount of phenylalanine thats necessary for normal growth and ...
GIUGLIANI, Luciana et al. Tetrahydrobiopterin responsiveness of patients with phenylalanine hydroxylase deficiency. J. Pediatr. (Rio J.) [online]. 2011, vol.87, n.3, pp.245-251. ISSN 0021-7557. http://dx.doi.org/10.2223/JPED.2090.. OBJECTIVE: To identify patients responsive to tetrahydrobiopterin (BH4) in a sample of Brazilians with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency (HPA-PAH). METHODS: Interventional study, convenience sampling. The inclusion criteria were: diagnosis of HPA-PAH; age , 7 years; phenylalanine-restricted diet and phenylalanine (Phe) levels , 6 mg/dL in all blood tests 1 year before inclusion. Blood samples were obtained the day before (day 1) and at 0, 4, 8 (day 2) and 24 h (day 3) after BH4 intake. Phe levels were measured using tandem mass spectrometry. The criteria used to define responsiveness to BH4 were: criterion 1- Phe reduction , 30% 8 h after BH4 administration; criterion 2 - Phe reduction , 30% 24 h after BH4 administration. RESULTS: ...
Optimal medical management of phenylketonuria PKU requires the use of special low-phenylalanine foods for many years. For women with PKU, elevated maternal blood levels of phenylalanine even at conception can lead to fetal damage. Despite this need, private health insurance, Medicaid, and other public health programs often exclude the cost of...
OBJECTIVE--To assess whether physical growth is affected in early treated Dutch patients with phenylketonuria (PKU). METHODS--The birth weights of all 137 early detected patients with PKU born in the period from 1974 to 1988 in the Netherlands were compared with reference values. Height, head circumference, and weight were measured at the age at which treatment started (commonly about 2-3 weeks), at 6 months of age, and yearly from the childs first birthday up to the age of 10 years. These measurements were compared with reference values. RESULTS--The adjusted birth weight in patients with PKU was 141 g (95% confidence interval (CI) 66 to 216 g) less than Dutch reference values by Kloosterman and 103 g (95% CI 9 to 196 g) less compared with the birth weight of another reference group. At the age at which treatment started, z scores of patients for height by age were -0.23 (95% CI -0.44 to -0.02) and z scores for head circumference by the age were -0.25 (95% CI -0.44 to -0.06). From the age at ...
Phenylketonuria (PKU) is an autosomal recessive metabolic disorder occurring in 1 in 10,000 to 20,000 births. The absence of phenylalanine hydroxylase results in the accumulation of phenylalanine, its precursors, and its metabolites while at the same time causing tyrosine, the next step in the enzymatic pathway, to become an essential amino acid. The metabolic defect leads to reduced synthesis of a variety of neurotransmitters, serotonin being the most severely affected. Melanin synthesis also is inhibited, so that infants who have PKU are characteristically (though not always) fair-haired, fair-skinned, and blue-eyed.. Early in life, these infants may be asymptomatic or may present with severe vomiting, irritability, eczema, or a musty or mousy odor of the urine. When untreated, the disorder results in profound mental retardation, with intelligence quotient (IQ) scores below 30. Neurologic impairment ranges from neurologically intact (one third of cases) to some hypertonicity (one third) to ...
Assessment of the Phenylketonuria (PKU)-Associated Mutation p.R155H Biochemical Manifestations by Mass Spectrometry-Based Blood Metabolite Profiling
Learn about Phenylketonuria (PKU) symptoms and causes from experts at Boston Childrens, ranked best Childrens Hospital by US News.
United States Phenylketonuria (PKU) Market by Manufacturers, States, Type and Application, Forecast to 2022 published in Jun 2017 spread across 122 pages, providing competitive landscape analysis, market share info and more is now available for US $4480 at Market Research Reports.
Page 1 / 20 PKU (Phenylketonuria) Serum HPLC Analysis Kit User Manual ZV C Page 2 / 20 Table of Contents 1. INTENDED USE SUMMARY AND EXPLANATION TEST PRINCIPLE... 3
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Oxidative stress is seen in various metabolic disorders for unknown reasons. Oxidative stress is defined as an imbalance between pro-oxidant and antioxidant status in favor of the former. This study investigated whether oxidative stress exists in phenylketonuria (PKU) using the BTBR-Pahenu2 animal model for PKU. Animals (14-24 weeks old) were sacrificed and brain and red blood cells (RBCs) were obtained aseptically. The lipid peroxidation by-product, evaluated as malondialdehyde (MDA), was significantly higher in the brains and RBCs of PKU animals (n = 6) than in controls (n = 6). Glutathione/glutathione disulfide, a good indicator for tissue thiol status, was significantly decreased both in the brains and RBCs. Some antioxidant enzymes were also analyzed in RBCs, including glucose-6-phosphate dehydrogenase (G6PD), which provides the RBCs main reducing power, reduced nicotinamide adenine dinucleotide phosphate (NADPH), and catalase detoxifies H2O2 by catalyzing its reduction to O2 and H2O. Both
Phenylketonuria (Downloadable Video) : PKU is a rare disorder which prevents the normal metabolism of protein foods. It is an autosomal recessively inherited condition. Both parents carry the same altered gene, giving a 1 in 4 risk of having an affected child at each pregnancy. Program discusses PKU and is articulated by a young woman with PKU.
People who follow the prescribed dietary treatment from birth may have no symptoms. Their PKU would be detectable only by a blood test. People must adhere to a special diet low in Phe for optimal brain development. Since Phe is necessary for the synthesis of many proteins, it is required for appropriate growth, but levels must be strictly controlled. For people who do not have phenylketonuria, the U.S. Institute of Medicine set recommended at least 33 mg/kg body weight/day phenylalanine plus tyrosine for adults 19 years and older.[29] For people with PKU, a recommendation for children up to age 10 years is 200 to 500 mg/d; for older children and adults 220 to 1200 mg/day. Where in the range depends on body weight and age, and on monitoring blood concentration.[30] Optimal health ranges (or "target ranges") are between 120 and 360 µmol/L or equivalently 2 to 6 mg/dL, and aimed to be achieved during at least the first 10 years,[31] to allow the brain to develop normally. The age at which people ...
This 1317 word essay is about Health, Medicine, Clinical medicine, Intellectual disability, Rare diseases, Phenylketonuria, RTT, Metabolism. Read the full essay now!
Phenylketonuria, also called PKU, is a genetic disorder that increases the levels of phenylalanine in the blood. Phenylalanine is an ...
Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
Your Genes, Your Health, DNA Learning Centers multimedia guide to genetic, inherited disorders: phenylketonuria, PKU, autosomal recessive, genetic disorder
Descriptive epidemiology of missed cases of phenylketonuria and congenital hypothyroidism.: We conducted a structured telephone survey of state public health la
A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Mild phenylketonuria
Phenylketonuria - genetic, clinical and therapeutic aspects. . Biblioteca virtual para leer y descargar libros, documentos, trabajos y tesis universitarias en PDF. Material universiario, documentación y tareas realizadas por universitarios en nuestra biblioteca. Para descargar gratis y para leer online.
Learn more about Phenylketonuria at Doctors Hospital of Augusta DefinitionCausesRisk FactorsSymptomsDiagnosisTreatmentPreventionrevision ...
View Test Prep - 53855307-HESI from NURSING 420 at Kentucky. e that occurs during diabetic ketoacidosis. Cold, clammy skin, irritability, sweating, and tremors are all signs of hypoglycemia. 120.
Despite early and ongoing dietary management with a phe-restricted diet, suboptimal neuropsychological function has been observed in PKU. The restrictive nature of the PKU diet may expose patients to sub-optimal nutritional intake and deficiencies which may impact normal brain function. A systematic review of the published literature was carried out, where possible with meta-analysis, to compare the status of nutrients (Nutrients: DHA, EPA phospholipids, selenium, vitamins B6, B12, E, C, A, D, folic acid, choline, uridine, calcium, magnesium, zinc, iron, iodine and cholesterol) known to be important for brain development and functioning between individuals with PKU and healthy controls. Of 1534 publications identified, 65 studies met the entry criteria. Significantly lower levels of DHA, EPA and cholesterol were found for PKU patients compared to healthy controls. No significant differences in zinc, vitamins B12, E and D, calcium, iron and magnesium were found between PKU patients and controls. Because
PKU : Phenylketonuria (PKU) is the most frequent inherited disorder of amino acid metabolism (about 1:10,000-1:15,000) and was the first successfully treated inborn error of metabolism. It is inherited in an autosomal recessive manner and is caused by a defect in the enzyme phenylalanine hydroxylase (PAH), which converts the essential amino acid phenylalanine to tyrosine. Deficiency of PAH results in decreased levels of tyrosine and an accumulation of phenylalanine in blood and tissues. Untreated, PKU leads to severe brain damage with intellectual impairment, behavior abnormalities, seizures, and spasticity. The level of enzyme activity differentiates classic PKU (PAH activity |1%) from other milder forms; however, all are characterized by increased levels of phenylalanine (hyperphenylalaninemia). Treatment includes the early introduction of a diet low in phenylalanine. Tetrahydrobiopterin (BH4) is a cofactor of not only PAH, but also of the tyrosine and tryptophan hydroxylases. Approximately 2% of
Phenylketonuria Phenylketonuria (PKU) is a rare condition in which a baby is born without the ability to properly break down an amino acid called phenylalanine. Causes, incidence, and risk factors Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby…
human disease - Phenylketonuria and galactosemia - Phenylketonuria (PKU) and galactosemia also are genetically inherited metabolic diseases. Both result from the lack of a key enzyme needed to convert one type of chemical compound into another. PKU is caused by an inability to metabolize the amino acid phenylalanine. People with galactosemia cannot change galactose, one type of sugar, into glucose, another type. Both diseases can result in intellectual disability in children if not corrected in time. (See also heredity.)
Study of the Response of Tetrahydrobiopterin on S-Phenylalanine in Patients With PKU Housing the Y414C Mutation. --- Y414C --- Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion Criteria: Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy - Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion Criteria: Less than 8 years of age Pregnancy or treated with the intensive diet of pregnancy - Phenylketonuria Phenylketonurias PKU, phenylketonuria, is a rare, inherited metabolic disorder that results in mental retardation if not a very strict low-protein diet is started within the first weeks of life. --- Y414C --- Inclusion Criteria: Diagnosed mild PKU with 2 known mutations in the PAH gene, hereof at least one Y414C From the age of eight Informed consent - Exclusion ...
The Guthrie test, also called the PKU test, is a diagnostic tool to test infants for phenylketonuria a few days after birth. To administer the Guthrie test, doctors use Guthrie cards to collect capillary blood from an infants heel, and the cards are saved for later testing. Robert Guthrie invented the test in 1962 in Buffalo, New York. Phenylketonuria (PKU) is a congenital birth abnormality in which toxic levels of the amino acid phenylalanine build up in the blood, a process that affects the brains in untreated infants.. Format: Articles Subject: Technologies ...
Comprehensive nationwide screening for PKU began in 1969. This means that many individuals with PKU born prior to nationwide screening were not diagnosed until damage to the brain was evident. Consequently, many individuals with PKU have spent their lives in social care environments or at home needing constant supervision.. In addition to learning difficulties, high blood phenylalanine levels may cause other problems. Some individuals exhibit behavioural problems, for example - aggressiveness, hyperactivity, self-injurious behaviour, sleep problems and they may also suffer from skin conditions such as eczema.. Guidance on the treatment of people with untreated/late treated PKU is contained in the consensus European Guidelines.. ...
Anjemo K, van Rijn M, Verkerk PH, Burgerhof JG, Heiner-Fokkema MR, van Spronsen FJ. PKU: high plasma phenylalanine concentrations are associated with increased prevalence of mood swings. Mol Genet Metab. 2011;104(3):231-4.. Camacho F, Mazuecos J. Oral and topical L-phenylalanine, clobetasol propionate, and UVA/sunlight--a new study for the treatment of vitiligo. J Drugs Dermatol. 2002;1(2):127-31.. Castro IP, Borges JM, Chagas HA, Tiburcio J, Starling AL, Aguiar MJ. Relatinships between phenylalanine levels, intelligence and socioeconomic status of patients with phenylketonuria. J Pediatr. 2012;88(4):353-6.. Dietary Guidelines for Americans 2005. Rockville, MD : US Dept of Health and Human Services and US Dept of Agriculture; 2005.. Dillon EL, Sheffield-Moore M, Paddon-Jones D, Gilkison C, et al. Amino acid supplementation increases lean body mass, basal muscle protein synthesis, and insulin-like growth factor-I expression in older women. J Clin Endocrinol Metab. 2009 May;94(5):1630-7. Epub ...
ABSTRACT: Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine (Phe) metabolism characterized by deficient activity of the hepatic enzyme, phenylalanine hydroxylase. Increased blood Phe levels are toxic to a variety of tissues, particularly the developing fetal brain. The mainstay of treatment for PKU is the dietary restriction of Phe, which results in decreased blood Phe levels. Lifelong dietary restriction and therapy improves quality of life in patients with PKU and should be encouraged. Genetic counseling is recommended for all reproductive-aged women with PKU, and sh... ...
A Natural Approach To Health Living With Phenylketonuria I had a question the other day about phenylketonuria. Phenylketonuria (PKU) is an inhe
Objective: To evaluate the activities of Na+,K+-ATPase and Mg2+-ATPase in erythrocyte membranes from phenylketonuric (PKU) patients and to correlate the enzyme activities with their blood phenylalanine (Phe) levels, biogenic amines as well as with their precursors tyrosine (Tyr) and tryptophan (Try). Design and methods: Twenty three PKU patients were divided into group A (n = 12) on a stricted diet (Phe 1.57 ± 0.52 mg/dL or 0.10 ± 0.03 mM) and group B (n = 11) on a "loose" diet (Phe 24.45 ± 1.50 mg/dL or 1.72 ± 0.09 mM). The enzyme activities were measured spectrophotometrically, the amino acids with an automatic amino analyser and the biogenic amines with HPLC methods. Results: In group B, plasma amino acids (Tyr, Try), their biogenic amines [adrenaline (A), noradrenaline (NA), dopamine (DA) and serotonin (5HT)], (Na+,K+)-ATPase and Mg2+-ATPase activities were found remarkably decreased (p , 0.001). Conclusions: High Phe and/or low NA, DA, 5HT plasma levels may indirectly inhibit the ...
Now days a team of University of Wisconsin-Madison researchers have publish the second of two key papers showing that a unique protein derived from whey - known as glycomacropeptide, or GMP - is safe for people with PKU to eat. GMP is the first known natural protein that is safe for this group, and these findings are poised to revolutionize the PKU diet. Already, Cambrooke Foods, a Massachusetts company that specializes in the manufacture of medical foods, is in the process of developing GMP-fortified snack foods for commercial sale. This is an accomplishment because now people with PKU can have better control of their disease ...
Objective: Classical phenylketonuria (PKU) is an inborn error of metabolism characterized by high Phenylalanine (Phe) levels in blood and treated with a special low Phe diet which can be defined as "nonatherogenic". Since coronary heart disease (CHD) was reported to be a disease of zinc and copper imbalance, we aimed indirectly to evaluate the effect of the special diet on the size of LDL particles and to investigate whether some minerals and trace elements are involved in their lipoprotein metabolism. Methods: Eighty-six (N=86) PKU patients were divided into two groups. Group A (N=44) on a strict diet and group B (N=42) who did not adhere to their treatment. Healthy children (N=98) were the controls. Serum total cholesterol (t-Chol), triacylglycerol, High-density lipoprotein (HDL) and t-Chol in very-low-density lipoprotein (VLDL) and low-density lipoprotein (LDL) were measured with enzymatic methods, whereas Apolipoprotein AI (Apo AI), Apolipoprotein AII (Apo AII) and Apolipoprotein B (Apo B) ...