Phenylketonurias
Phenylketonuria, Maternal
Phenylalanine Hydroxylase
Phenylalanine
Phenylpyruvic Acids
Neonatal Screening
Metabolism, Inborn Errors
Microcephaly
Diet Therapy
Intelligence
Phenylalanine Ammonia-Lyase
Homogentisic Acid
Congenital Hypothyroidism
Intellectual Disability
Diet, Protein-Restricted
Galactosemias
A different approach to treatment of phenylketonuria: phenylalanine degradation with recombinant phenylalanine ammonia lyase. (1/423)
Phenylketonuria (PKU), with its associated hyperphenylalaninemia (HPA) and mental retardation, is a classic genetic disease and the first to have an identified chemical cause of impaired cognitive development. Treatment from birth with a low phenylalanine diet largely prevents the deviant cognitive phenotype by ameliorating HPA and is recognized as one of the first effective treatments of a genetic disease. However, compliance with dietary treatment is difficult and when it is for life, as now recommended by an internationally used set of guidelines, is probably unrealistic. Herein we describe experiments on a mouse model using another modality for treatment of PKU compatible with better compliance using ancillary phenylalanine ammonia lyase (PAL, EC 4.3.1.5) to degrade phenylalanine, the harmful nutrient in PKU; in this treatment, PAL acts as a substitute for the enzyme phenylalanine monooxygenase (EC 1.14.16.1), which is deficient in PKU. PAL, a robust enzyme without need for a cofactor, converts phenylalanine to trans-cinnamic acid, a harmless metabolite. We describe (i) an efficient recombinant approach to produce PAL enzyme, (ii) testing of PAL in orthologous N-ethyl-N'-nitrosourea (ENU) mutant mouse strains with HPA, and (iii) proofs of principle (PAL reduces HPA)-both pharmacologic (with a clear dose-response effect vs. HPA after PAL injection) and physiologic (protected enteral PAL is significantly effective vs. HPA). These findings open another way to facilitate treatment of this classic genetic disease. (+info)A model of human phenylalanine metabolism in normal subjects and in phenylketonuric patients. (2/423)
The derivation of a quantitative model of phenylalanine metabolism in humans is described. The model is based on the kinetic properties of pure recombinant human phenylalanine hydroxylase and on estimates of the in vivo rates of phenylalanine transamination and protein degradation. Calculated values for the steady-state concentration of blood phenylalanine, rate of clearance of phenylalanine from the blood after an oral load of the amino acid, and dietary tolerance of phenylalanine all agree well with data from normal as well as from phenylketonuric patients and obligate heterozygotes. These calculated values may help in the decision about the degree of restriction of phenylalanine intake that is necessary to achieve a satisfactory clinical outcome in classical patients and in those with milder forms of the disease. (+info)Biopterin derivatives in normal and phenylketonuric patients after oral loads of L-phenylalanine, L-tyrosine, and L-tryptophan. (3/423)
Plasma biopterin derivatives studied in 10 normal and 21 phenylketonuric children showed a significantly high concentration in the latter group. Biopterin derivatives correlated with plasma phenylalanine concentration, but in normal adults given an oral phenylalanine load the rate of increase with phenylalanine differed from that in phenylketonuric patients. A patient with hyperphenylalaninaemia, not due to phenylketonuria, had an abnormal biopterin derivatives response to phenylalanine distinct from that of patients with classical phenylketonuria. This may be a useful investigation to differentiate some variants of phenylketonuria. (+info)Haplotypes and mutations of the PAH locus in Egyptian families with PKU. (4/423)
A high degree of molecular heterogeneneity at the phenylalanine hydroxylase (PAH) locus was established by examining RFLP haplotypes and PAH mutations in the families of 13 Egyptians with phenylketenouria (PKU). Thirteen different haplotypes were unequivocally determined in these kindreds. Haplotypes 1.8, 3.9, 4.3, 7.8, 22.11, 27.6, and 52.8 were found segregating with normal chromosomes, whilst haplotypes 1.8, 5.9, 23.8, 32.8, the newly assigned 73.9, and two as yet incomplete but novel haplotypes were found segregating with the mutant chromosomes. There was no particular preference for a single haplotype among normal or mutant chromosomes. Nine different mutations were also identified among the 26 alleles. IVS 10nt11g (8/26), IVS 2nt5g-c (4/26), R261Q (3/26), R176X (2/26), Y206D (2/26), S231P (2/26), Y198fs [593-614del22bp]; (2/26), G46fs [136/137delG]; (1/26), and E178G (1/26). Six of these mutations (IVS 2nt5g-c, R176X, Y198fs, R261Q, S231P, and IVS 10nt11g) are common to other Mediterranean populations. Two mutations not previously reported in the Mediterranean basin were also observed (Y206D and G46fs). These intriguing preliminary findings confirm IVS 10nt11g as a major mutation among Mediterranean mutations and demonstrate the need for a more comprehensive study of Arab populations to confirm the uniqueness of the two novel mutations to the Egyptian population. (+info)Effects of dietary mixtures of amino acids on fetal growth and maternal and fetal amino acid pools in experimental maternal phenylketonuria. (5/423)
BACKGROUND: 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. OBJECTIVE: We studied whether a dietary mixture of several large neutral amino acids (LNAAs) would improve fetal brain growth and normalize the fetal brain amino acid profile in a rat model of maternal PKU induced by DL-alpha-methylphenylalanine (AMPhe). DESIGN: Long-Evans rats were fed a basal diet or a similar diet containing 0.5% AMPhe + 3.0% L-phenylalanine (AMPhe + Phe diet) from day 11 until day 20 of gestation in experiments to test various mixtures of LNAAs. Maternal weight gains and food intakes to day 20, fetal body and brain weights at day 20, and fetal brain and fetal and maternal plasma amino acid concentrations at day 20 were measured. RESULTS: Concentrations of phenylalanine and tyrosine in fetal brain and in maternal and fetal plasma were higher and fetal brain weights were lower in rats fed the AMPhe + Phe diet than in rats fed the basal diet. However, fetal brain growth was higher and concentrations of phenylalanine and tyrosine in fetal brain and in maternal and fetal plasma were lower in rats fed the AMPhe + Phe diet plus LNAAs than in rats fed the diet containing AMPhe + Phe alone. CONCLUSION: LNAA supplementation of the diet improved fetal amino acid profiles and alleviated most, but not all, of the depression in fetal brain growth observed in this model of maternal PKU. (+info)Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. (6/423)
Large neutral amino acids (LNAAs), including phenylalanine (Phe), compete for transport across the blood-brain barrier (BBB) via the L-type amino acid carrier. Accordingly, elevated plasma Phe impairs brain uptake of other LNAAs in patients with phenylketonuria (PKU). Direct effects of elevated brain Phe and depleted LNAAs are probably major causes for disturbed brain development and function in PKU. Competition for the carrier might conversely be put to use to lower Phe influx when the plasma concentrations of all other LNAAs are increased. This hypothesis was tested by measuring brain Phe in patients with PKU by quantitative 1H magnetic resonance spectroscopy during an oral Phe challenge with and without additional supplementation with all other LNAAs. Baseline plasma Phe was approximately 1,000 micromol/l and brain Phe was approximately 250 micromol/l in both series. Without LNAA supplementation, brain Phe increased to approximately 400 micromol/l after the oral Phe load. Electroencephalogram (EEG) spectral analysis revealed acutely disturbed brain activity. With concurrent LNAA supplementation, Phe influx was completely blocked and there was no slowing of EEG activity. These results are relevant for further characterization of the LNAA carrier and of the pathophysiology underlying brain dysfunction in PKU and for treatment of patients with PKU, as brain function might be improved by continued LNAA supplementation. (+info)Genetic and phenotypic aspects of phenylalanine hydroxylase deficiency in Spain: molecular survey by regions. (7/423)
We present an extensive study of the genetic diversity of phenylalanine hydroxylase deficiency in the Spanish phenylketonuria population. We have analysed 195 PKU patients by DGGE analysis identifying 67 different mutations which represent 89% of the total mutant chromosomes. Seventeen mutations first described in Spain have not yet been detected elsewhere; ten of these are reported here for the first time. The clinical significance of this high genetic heterogeneity was examined by analysing the genotype-phenotype correlations, mainly focusing on the mild hyperphenylalaninaemia (MHP) phenotype. The genotypes found in a group of 93 MHP patients, the largest analysed so far, are described in detail, as well as the relative frequencies of the MHP mutations identified. From the total pool of mutations, 27 can be considered severe, 18 can be defined as mild and 13 as associated with MHP. The prevalent mutations correspond to one severe mutation (IVS10nt-11), one MHP mutation (A403V) and two mild mutations (165T and V388M). The high frequency of mutations with a low degree of severity can explain the relatively higher prevalence of MHP and mild PKU phenotypes in Spain compared with NOrthern European populations. We have looked at the geographical distribution in Spain of the more common mutations, finding evidence of local mutation clustering, which could be the result of differences in the ethnic background and/or of genetic drift within each region. (+info)Review: emotional and behavioral functioning in phenylketonuria. (8/423)
OBJECTIVE: To examine 17 studies of the psychological sequelae of early-treated phenylketonuria (PKU) with emphasis on the impact of dietary control on functioning. Two questions are addressed: (1) What is the typical psychological profile associated with PKU? (2) Is emotional and behavioral disturbance more prevalent in PKU-affected individuals compared to appropriate controls? METHOD: Computerized searches of PsycINFO identified studies using behavioral, personality, and diagnostic measures. RESULTS: Findings converge upon a profile including attentional difficulties, depression, anxiety, and low self-esteem. Methodological constraints limit conclusions regarding the nature and severity of observed difficulties. A single study has used comparison groups appropriate for the simultaneous examination of the questions posed (Waisbren and Levy, 1991). CONCLUSIONS: We discuss results using a biopsychosocial framework, addressing the factors and processes that may influence emotional and behavioral functioning in this neurodevelopmental disorder. We outline potential lines of new investigation that address critical methodological factors. (+info)Phenylketonurias (PKU) is a genetic disorder characterized by the body's inability to properly metabolize the amino acid phenylalanine, due to a deficiency of the enzyme phenylalanine hydroxylase. This results in a buildup of phenylalanine in the blood and other tissues, which can cause serious neurological problems if left untreated.
The condition is typically detected through newborn screening and can be managed through a strict diet that limits the intake of phenylalanine. If left untreated, PKU can lead to intellectual disability, seizures, behavioral problems, and other serious health issues. In some cases, medication or a liver transplant may also be necessary to manage the condition.
Phenylketonuria, Maternal is not a medical condition itself but rather a term that refers to the potential effects of maternal phenylketonuria (PKU) on the unborn child. PKU is a genetic disorder characterized by an inability to metabolize the amino acid phenylalanine, leading to its accumulation in the body and causing intellectual disability and other neurological problems if left untreated.
If a woman with PKU becomes pregnant and does not maintain a strict low-phenylalanine diet during pregnancy, the high levels of phenylalanine in her blood can lead to abnormal fetal development. The unborn child may develop congenital heart defects, microcephaly (abnormally small head), intrauterine growth retardation, and intellectual disability. This is known as maternal PKU syndrome or fetal PKU.
Therefore, it's crucial for women with PKU who are planning to become pregnant or are already pregnant to adhere strictly to a low-phenylalanine diet and monitor their blood phenylalanine levels regularly to minimize the risk of maternal PKU syndrome.
Phenylalanine Hydroxylase (PAH) is an enzyme that plays a crucial role in the metabolism of the essential amino acid phenylalanine. This enzyme is primarily found in the liver and is responsible for converting phenylalanine into tyrosine, another amino acid. PAH requires a cofactor called tetrahydrobiopterin (BH4) to function properly.
Defects or mutations in the gene that encodes PAH can lead to a genetic disorder known as Phenylketonuria (PKU). In PKU, the activity of PAH is significantly reduced or absent, causing an accumulation of phenylalanine in the body. If left untreated, this condition can result in severe neurological damage and intellectual disability due to the toxic effects of high phenylalanine levels on the developing brain. A strict low-phenylalanine diet and regular monitoring of blood phenylalanine levels are essential for managing PKU and preventing associated complications.
Phenylalanine is an essential amino acid, meaning it cannot be produced by the human body and must be obtained through diet or supplementation. It's one of the building blocks of proteins and is necessary for the production of various molecules in the body, such as neurotransmitters (chemical messengers in the brain).
Phenylalanine has two forms: L-phenylalanine and D-phenylalanine. L-phenylalanine is the form found in proteins and is used by the body for protein synthesis, while D-phenylalanine has limited use in humans and is not involved in protein synthesis.
Individuals with a rare genetic disorder called phenylketonuria (PKU) must follow a low-phenylalanine diet or take special medical foods because they are unable to metabolize phenylalanine properly, leading to its buildup in the body and potential neurological damage.
Phenylpyruvic acid is not a medical condition, but rather a chemical compound that is produced in the body. It is a byproduct of phenylalanine metabolism, an essential amino acid that cannot be synthesized by the human body and must be obtained through dietary sources such as proteins.
In some rare genetic disorders, such as phenylketonuria (PKU), the body is unable to properly metabolize phenylalanine due to a deficiency or malfunction of the enzyme phenylalanine hydroxylase. As a result, phenylpyruvic acid and other toxic byproducts accumulate in the body, leading to various health problems such as intellectual disability, seizures, and behavioral issues.
Therefore, the medical relevance of phenylpyruvic acid lies in its association with certain metabolic disorders, particularly PKU, and its potential use as a diagnostic marker for these conditions.
Biopterin is a type of pteridine compound that acts as a cofactor in various biological reactions, particularly in the metabolism of amino acids such as phenylalanine and tyrosine. It plays a crucial role in the production of neurotransmitters like dopamine, serotonin, and noradrenaline. Biopterin exists in two major forms: tetrahydrobiopterin (BH4) and dihydrobiopterin (BH2). BH4 is the active form that participates in enzymatic reactions, while BH2 is an oxidized form that can be reduced back to BH4 by the action of dihydrobiopterin reductase.
Deficiencies in biopterin metabolism have been linked to several neurological disorders, including phenylketonuria (PKU), dopamine-responsive dystonia, and certain forms of autism. In these conditions, the impaired synthesis or recycling of biopterin can lead to reduced levels of neurotransmitters, causing various neurological symptoms.
Neonatal screening is a medical procedure in which specific tests are performed on newborn babies within the first few days of life to detect certain congenital or inherited disorders that are not otherwise clinically apparent at birth. These conditions, if left untreated, can lead to serious health problems, developmental delays, or even death.
The primary goal of neonatal screening is to identify affected infants early so that appropriate treatment and management can be initiated as soon as possible, thereby improving their overall prognosis and quality of life. Commonly screened conditions include phenylketonuria (PKU), congenital hypothyroidism, galactosemia, maple syrup urine disease, sickle cell disease, cystic fibrosis, and hearing loss, among others.
Neonatal screening typically involves collecting a small blood sample from the infant's heel (heel stick) or through a dried blood spot card, which is then analyzed using various biochemical, enzymatic, or genetic tests. In some cases, additional tests such as hearing screenings and pulse oximetry for critical congenital heart disease may also be performed.
It's important to note that neonatal screening is not a diagnostic tool but rather an initial step in identifying infants who may be at risk of certain conditions. Positive screening results should always be confirmed with additional diagnostic tests before any treatment decisions are made.
Anabaena variabilis is a species of cyanobacteria (blue-green algae) that can form filamentous colonies. It is capable of fixing atmospheric nitrogen, making it an important contributor to the nitrogen cycle in aquatic environments. The term 'variabilis' refers to the variable size and shape of its cells.
Here's a simple medical definition:
Anabaena variabilis: A species of filamentous cyanobacteria known for its ability to fix nitrogen, contributing to the nitrogen cycle in aquatic environments. Its cells can vary in size and shape.
Inborn errors of metabolism (IEM) refer to a group of genetic disorders caused by defects in enzymes or transporters that play a role in the body's metabolic processes. These disorders result in the accumulation or deficiency of specific chemicals within the body, which can lead to various clinical manifestations, such as developmental delay, intellectual disability, seizures, organ damage, and in some cases, death.
Examples of IEM include phenylketonuria (PKU), maple syrup urine disease (MSUD), galactosemia, and glycogen storage diseases, among many others. These disorders are typically inherited in an autosomal recessive manner, meaning that an affected individual has two copies of the mutated gene, one from each parent.
Early diagnosis and management of IEM are crucial to prevent or minimize complications and improve outcomes. Treatment options may include dietary modifications, supplementation with missing enzymes or cofactors, medication, and in some cases, stem cell transplantation or gene therapy.
Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.
Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.
A newborn infant is a baby who is within the first 28 days of life. This period is also referred to as the neonatal period. Newborns require specialized care and attention due to their immature bodily systems and increased vulnerability to various health issues. They are closely monitored for signs of well-being, growth, and development during this critical time.
Diet therapy is a medical treatment that involves using specific dietary modifications to manage or treat various medical conditions. This can include changing the types and amounts of food consumed, as well as adjusting the timing and frequency of meals. The goal of diet therapy is to provide the body with the necessary nutrients to support healing and maintain health while also addressing any specific dietary needs or restrictions related to a particular medical condition.
Diet therapy may be used to treat a wide range of conditions, including diabetes, heart disease, high blood pressure, obesity, food allergies and intolerances, gastrointestinal disorders, and kidney disease. For example, a person with diabetes may be placed on a diet that restricts sugar and simple carbohydrates to help manage their blood sugar levels, while a person with heart disease may be advised to follow a low-fat, high-fiber diet to reduce their risk of heart attack and stroke.
Diet therapy is often used in conjunction with other medical treatments, such as medication and surgery, and should be prescribed and monitored by a healthcare professional, such as a registered dietitian or a doctor who specializes in nutrition. It is important for individuals to follow their specific dietary recommendations closely in order to achieve the best possible outcomes.
I must clarify that I cannot provide a "medical definition" of intelligence, as intelligence is not a concept that is typically defined within the field of medicine. Intelligence is a term used to describe the ability to learn, understand, and make judgments or decisions based on reason, experience, and information. It is often measured through various cognitive abilities such as problem-solving, critical thinking, creativity, and knowledge acquisition.
The concept of intelligence is studied in many fields, including psychology, neuroscience, and education. In medicine, healthcare professionals may assess a person's cognitive abilities to better understand their health status or develop treatment plans. However, there is no specific "medical definition" for intelligence. Instead, it is a multifaceted concept that can be influenced by various genetic, environmental, and experiential factors.
Phenylalanine Ammonia-Lyase (PAL) is a enzyme that catalyzes the non-oxidative deamination of phenylalanine to trans-cinamic acid, releasing ammonia in the process. This reaction is a key step in the biosynthesis of various aromatic compounds in plants and microorganisms. In humans, PAL is not normally present, but its introduction through gene therapy has been studied as a potential treatment for phenylketonuria (PKU), a genetic disorder characterized by an inability to metabolize phenylalanine properly, leading to its accumulation in the body and potential neurological damage.
Homogentisic acid is not a medical condition, but rather an organic compound that plays a role in certain metabolic processes. It is a breakdown product of the amino acid tyrosine, and is normally further metabolized by the enzyme homogentisate 1,2-dioxygenase.
In some individuals, a genetic mutation can result in a deficiency of this enzyme, leading to a condition called alkaptonuria. In alkaptonuria, homogentisic acid accumulates in the body and can cause damage to connective tissues, joints, and other organs over time. Symptoms may include dark urine, arthritis, and pigmentation of the ears and eyes. However, it is important to note that alkaptonuria is a rare condition, affecting only about 1 in 250,000 people worldwide.
Congenital hypothyroidism is a medical condition characterized by the partial or complete absence of thyroid hormone production in the baby's body at birth. The thyroid gland, which is located in the front of the neck, produces hormones that are essential for normal growth and development of the brain and body.
Congenital hypothyroidism can occur due to various reasons such as the absence or abnormal development of the thyroid gland, or a defect in the production or regulation of thyroid hormones. In some cases, it may be caused by genetic mutations that affect the development or function of the thyroid gland.
If left untreated, congenital hypothyroidism can lead to mental and physical retardation, growth problems, and other health issues. Therefore, it is important to diagnose and treat this condition as early as possible, usually within the first few weeks of life. Treatment typically involves replacing the missing thyroid hormones with synthetic medications, which are safe and effective when administered under a doctor's supervision.
Intellectual disability (ID) is a term used when there are significant limitations in both intellectual functioning and adaptive behavior, which covers many everyday social and practical skills. This disability originates before the age of 18.
Intellectual functioning, also known as intelligence, refers to general mental capacity, such as learning, reasoning, problem-solving, and other cognitive skills. Adaptive behavior includes skills needed for day-to-day life, such as communication, self-care, social skills, safety judgement, and basic academic skills.
Intellectual disability is characterized by below-average intelligence or mental ability and a lack of skills necessary for day-to-day living. It can be mild, moderate, severe, or profound, depending on the degree of limitation in intellectual functioning and adaptive behavior.
It's important to note that people with intellectual disabilities have unique strengths and limitations, just like everyone else. With appropriate support and education, they can lead fulfilling lives and contribute to their communities in many ways.
A protein-restricted diet is a medical nutrition plan that limits the daily intake of protein. This type of diet may be recommended for individuals with certain kidney or liver disorders, as reducing protein intake can help decrease the workload on these organs and prevent further damage. The specific amount of protein restriction will depend on the individual's medical condition, overall health status, and prescribing healthcare professional's guidance.
It is essential to ensure that a protein-restricted diet is nutritionally adequate and balanced, providing sufficient calories, carbohydrates, fats, vitamins, and minerals. A registered dietitian or nutritionist should closely supervise the implementation of such a diet to prevent potential nutrient deficiencies and other related complications. In some cases, medical supplements may be necessary to meet the individual's nutritional requirements.
Individuals on a protein-restricted diet should avoid high-protein foods like meat, poultry, fish, eggs, dairy products, legumes, and nuts. Instead, they should focus on consuming low-protein or protein-free alternatives, such as fruits, vegetables, refined grains, and specific medical food products designed for individuals with special dietary needs.
It is crucial to consult a healthcare professional before starting any new diet, particularly one that restricts essential nutrients like protein. A healthcare provider can help determine if a protein-restricted diet is appropriate and ensure it is implemented safely and effectively.
Galactosemia is a rare metabolic disorder that affects the body's ability to metabolize the simple sugar galactose, which is found in milk and other dairy products. It is caused by deficiency or complete absence of one of the three enzymes needed to convert galactose into glucose:
1. Galactokinase (GALK) deficiency - also known as Galactokinase galactosemia, is a milder form of the disorder.
2. Galactose-1-phosphate uridylyltransferase (GALT) deficiency - the most common and severe form of classic galactosemia.
3. Galactose epimerase (GALE) deficiency - also known as Epimerase deficiency galactosemia, is a rare and milder form of the disorder.
The most severe form of the disorder, GALT deficiency, can lead to serious health problems such as cataracts, liver damage, mental retardation, and sepsis if left untreated. Treatment typically involves removing galactose from the diet, which requires avoiding all milk and dairy products. Early diagnosis and treatment are crucial for improving outcomes in individuals with galactosemia.
Tyrosine is an non-essential amino acid, which means that it can be synthesized by the human body from another amino acid called phenylalanine. Its name is derived from the Greek word "tyros," which means cheese, as it was first isolated from casein, a protein found in cheese.
Tyrosine plays a crucial role in the production of several important substances in the body, including neurotransmitters such as dopamine, norepinephrine, and epinephrine, which are involved in various physiological processes, including mood regulation, stress response, and cognitive functions. It also serves as a precursor to melanin, the pigment responsible for skin, hair, and eye color.
In addition, tyrosine is involved in the structure of proteins and is essential for normal growth and development. Some individuals may require tyrosine supplementation if they have a genetic disorder that affects tyrosine metabolism or if they are phenylketonurics (PKU), who cannot metabolize phenylalanine, which can lead to elevated tyrosine levels in the blood. However, it is important to consult with a healthcare professional before starting any supplementation regimen.
Phenylketonuria
European Society for Phenylketonuria and Allied Disorders Treated as Phenylketonuria
Compound heterozygosity
Protein (nutrient)
Pleiotropy
Enzyme
Microcephaly
List of OMIM disorder codes
Genetics
Shoshin
Ochratoxin
Peter Tishler
Lofenalac
Genetic disorder
Wladimir Wertelecki
Finnish heritage disease
Ivar Asbjørn Følling
Tetrahydrobiopterin
Escherichia coli
6-Pyruvoyltetrahydropterin synthase deficiency
Hyperphenylalaninemia
Robert Guthrie
Horst Bickel
Beta-2-Thienylalanine
Pyruvate kinase
Healthline
Adenosine deaminase 2 deficiency
Sepiapterin
Glutamate (neurotransmitter)
Fever
Phenylketonuria - Wikipedia
Phenylketonuria | PKU | MedlinePlus
PKU Test for Phenylketonuria: Purpose, Procedure, Results
Phenylketonuria (PKU): Practice Essentials, Background, Pathophysiology
Phenylketonuria - New World Encyclopedia
Kidshealth: Phenylketonuria (PKU) | Akron Children's Hospital
Influencing Factors on the Use of Tetrahydrobiopterin in Patients with Phenylketonuria
Phenylketonuria (PKU) - Pediatrics - Merck Manuals Professional Edition
Phenylketonuria - Digital Naturopath
Documents - The National Society for Phenylketonuria (NSPKU)
Heterozygote advantage for the phenylketonuria allele. | Journal of Medical Genetics
Monitoring phenylalanine in patients with phenylketonuria - Clinical Advisor
Global Phenylketonuria Revenue Is Nearly 768 M USD And Actual Sales Is About 6190 K Units
An Eclectic CAGR Of 7% To Be Witnessed By The Phenylketonuria Treatment Market From 2020 to 2030
Phenylketonuria In New York State
Report of the NIH Consensus Development Conference on Phenylketonuria (PKU): Screening & Management: Chapter III | NICHD -...
phenylketonuria - Students | Britannica Kids | Homework Help
The First Study of Successful Pregnancies in Chinese patients with Phenylketonuria | Research Square
Treatment of classic phenylketonuria in Poland in the years 2009-2015 based on the database of the Polish National Health Fund...
Effect of genotype on changes in intelligence quotient after dietary relaxation in phenylketonuria and hyperphenylalaninaemia<...
DMIMD 2021 - Adult PKU outcomes: Study of a National Cohort of Adult Patients With Phenylketonuria
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability. | DrugBank Online
Phenylketonuria (PKU) Screening For Newborn Baby
Neonatal diagnosis is key in patients with phenylketonuria (PKU)
Phenylketonuria 2011 - Bioinformatikpedia
Phenylketonuria (PKU) - ElmaSkinCare
Global-phenylketonuria-treatment-market5
- New report published by Global Info Research which offers insights on the global Phenylketonuria Treatment market. (medgadget.com)
- According to the latest report published by Persistence Market Research, the global phenylketonuria treatment market for protein ingredients was valued at US$ 325.9 Mn in 2019, and is predicted to witness an impressive CAGR of over 6% during the forecast period (2020-2030). (medgadget.com)
- North America holds the highest share in the global phenylketonuria treatment market, owing to the presence of big market players and growing research & development efforts in the region. (medgadget.com)
- North America holds more than 40% of the global phenylketonuria treatment market share. (medgadget.com)
- "Increasing prevalence of PKU and rising adoption of PKU diets will upswing the global phenylketonuria treatment market over the coming years," says an analyst of Persistence Market Research. (medgadget.com)
Cystic fibrosis2
- Like many metabolic disorders, such as Tay-Sachs disease and cystic fibrosis , phenylketonuria is inherited as an autosomal recessive trait. (britannica.com)
- This test simply takes blood from the heel of the infant which is then taken to test against a range of genetic diseases for example cretinism, cystic fibrosis and phenylketonuria of course. (tu-muenchen.de)
Cases of phenylketonuria2
- In this day and age however, the incidence of such complications has been largely addressed as most countries and the United States all newborn children take part in screening programs that recognize nearly all cases of phenylketonuria at an early stage. (elmaskincare.com)
- Newborn blood testing identifies almost all cases of phenylketonuria. (alike.health)
Symptoms of Phenylketonuria3
- What Are Common Symptoms of Phenylketonuria (PKU)? (medlineplus.gov)
- Children and both younger and older infants adopted from other countries also need to go through the PKU test if they have or exhibit the symptoms of Phenylketonuria. (firstcry.com)
- This has to be done from the very first day when phenylalanine is diagnosed in infants to avoid the commonly known symptoms of phenylketonuria. (tu-muenchen.de)
Suffer from phenylketonuria2
- If the function of phenylalanine hydroxlase is reduced by a heavy amount the individuals suffer from phenylketonuria. (tu-muenchen.de)
- To find out if you or your child suffer from phenylketonuria, blood and urine tests are required, as well as genetic tests to identify the genetic mutation that causes it. (centromedicoabc.com)
Classical phenylketonuria3
- The aim of this paper is to evaluate the health care for patients with classical phenylketonuria in Poland. (termedia.pl)
- We reviewed the National Health Fund's reporting data concerning information on healthcare services for patients with classical phenylketonuria (PKU), which were reported to the payer by the healthcare service providers between 2009 and 2015. (termedia.pl)
- Individuals with values from 120-600 μmol/L are classified as having mild hyperphenylalaninaemia, 600-1200 μmol/L is classified as mild phenylketonuria and individuals with concentrations above 1200 μmol/L are classified as having the classical phenylketonuria. (tu-muenchen.de)
20201
- The Phenylketonuria Treatment Market will be worth US$ 565.8 Mn at a CAGR of 7% from 2020 to 2030. (medgadget.com)
Tetrahydrobiopterin2
- It is indicated to reduce blood phenylalanine levels in patients with hyperphenylalaninemia (HPA) caused by tetrahydrobiopterin (BH 4 )-responsive phenylketonuria (PKU). (medscape.com)
- To explore and analyze the influencing factors of tetrahydrobiopterin therapy in patients with phenylketonuria. (hindawi.com)
Dietary2
- There is no cure for phenylketonuria as yet, and dietary management is the only option to maintain the phenylalanine level in the body. (medgadget.com)
- Conventional wisdom still holds true however, and 87% of respondents in a study of 111 phenylketonuria treatment centers, held to the old viewpoint and favored a lifetime dietary restriction of amino acid-phenylalanine in the diet of patients with PKU. (elmaskincare.com)
MedlinePlus1
- A wealth of information is available through the NIH MedLine Plus Web site (www.nlm.nih.gov/medlineplus/phenylketonuria.html, accessed May 18, 2010). (clinicaladvisor.com)
Patients10
- The Cristine M. Trahms Program for Phenylketonuria at the University of Washington (depts.washington.edu/pku/, accessed May 18, 2010) also offers excellent resources for clinicians as well as educational materials for patients and families. (clinicaladvisor.com)
- This study explores the management and outcomes of planned, full-term pregnancies in patients with phenylketonuria (PKU). (researchsquare.com)
- Background-Associations between genotype and intellectual outcome in patients with phenylketonuria are complicated because intelligence is influenced by many variables, including environmental factors and other genetic determinants. (qub.ac.uk)
- Listen Professor François Maillot talk about Adult PKU outcomes: Study of a National Cohort of Adult Patients With Phenylketonuria in this presentation, from the DMIMD Conference 2021. (nutricia.co.uk)
- A project being jointly developed by Hospital Clínic and Hospital Sant Joan de Déu aims to better understand phenylketonuria (PKU), increase therapeutic options, and improve patients' quality of life. (clinicbarcelona.org)
- Patients with phenylketonuria excrete the produced phenylketone in urine and sweat. (tu-muenchen.de)
- The reduced activity of phenylalanine hydroxylase in patients with Phenylketonuria leads to harmful concentrations of phenylalanine. (tu-muenchen.de)
- Since patients need to know whether phenylketonuria is a hereditary disease, it is necessary to have a detailed understanding of the disease. (lifeistopic.com)
- Here I remind you that both children and adults with phenylketonuria should be treated as soon as possible to improve the harm of the disease in time, especially after the occurrence of phenylketonuria, patients will have mental phenomena such as excitement and loneliness, so mentality adjustment is also a very important important process. (lifeistopic.com)
- Recent studies have shown that patients with phenylketonuria (PKU), even with the early diagnosis and continuous treatment, may have symptoms of attention-deficit hyperactivity disorder (ADHD) and that the prevalence of ADHD in this population would be higher than in the general population. (elsevierpure.com)
Deficiency5
- Phenylketonuria (PKU), less commonly known as phenylalanine hydroxylase deficiency, is the most common inborn error of amino acid metabolism. (medscape.com)
- Phenylketonuria (PKU) is a genetic disorder characterized by a deficiency in, or problem with the proper activity of, the enzyme phenylalanine hydroxylase (PAH), which is necessary to metabolize the amino acid phenylalanine to the amino acid tyrosine . (newworldencyclopedia.org)
- Phenylketonuria (PKU), a congenital metabolic disease [ 1 ], is caused by phenylalanine metabolism disorder resulting from phenylalanine hydroxylase deficiency in the liver due to chromosomal gene mutation, which often leads to central nervous system damage [ 2 , 3 ]. (hindawi.com)
- Phenylketonuria is a genetic disorder caused by a deficiency or reduced activity of phenylalanine hydroxylase in the liver, resulting in abnormal phenylalanine metabolism. (lifeistopic.com)
- Phenylketonuria (PKU) results from an enzyme deficiency that leads to a toxic buildup of phenylalanine (Phe) in the brain. (capitainer.com)
20211
- 86 children with phenylketonuria (PKU) diagnosed and treated in our hospital from February 2019 to September 2021 were randomly enrolled. (hindawi.com)
Diagnosis2
- In the last decades diagnosis of phenylketonuria shifed away from a clinical, symptom orientated, diagnosis to a biochemical diagnosis. (tu-muenchen.de)
- Due to neonatal screening a diagnosis whether newborns suffer from a form of phenylketonuria can be diagnosed early in life before symptoms develop after 10-14days. (tu-muenchen.de)
Newborns4
- Rising prevalence of phenylketonuria among newborns and surging demand for novel formulations to treat the disease have led to increased opportunities for market players. (medgadget.com)
- To avoid the risk of intellectual disabilities, newborns in Poland are screened for phenylketonuria and are recommended to start a life-long phenylalanine-restricted diet shortly after birth. (termedia.pl)
- Phenylketonuria (PKU) Test is a blood test performed on newborns within 24 to 72 hours of their birth. (firstcry.com)
- Phenylketonuria is a serious metabolic disease which causes several syndromes if untreated in newborns. (tu-muenchen.de)
Autosomal recessive2
- Phenylketonuria is an autosomal recessive genetic disorder. (newworldencyclopedia.org)
- Phenylketonuria is an inherited metabolic disease caused by autosomal recessive inheritance. (lifeistopic.com)
Treatment6
- Powder blend form is expected to gain traction in phenylketonuria treatment, accounting for more than 90% share throughout the forecast years. (medgadget.com)
- The powder & granules form is expected to dominate phenylketonuria treatment, accounting for a share of more than 50% through 2030. (medgadget.com)
- Prominent players in the phenylketonuria treatment market are firming their product ranges through acquisitions and reaching out to emerging markets. (medgadget.com)
- Phenylketonuria (PKU) is hypothesized to be a conformational disease, with loss of function due to protein destabilization, and the restoration of enzyme function that is observed in BH(4) treatment might be transmitted by correction of protein misfolding. (drugbank.com)
- Comprehending the intricacies of the Phenylketonuria Gene Mutation aids in developing better treatment strategies and fosters innovative research. (gimtravel.com)
- Publisher Correction: Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a study. (bvsalud.org)
Classification1
- The classification of Phenylketonuria includes Medications and Supplements, and the revenue proportion of Medications in 2017 is about 53%, and the proportion is in increasing trend from 2013 to 2017. (medgadget.com)
Maternal1
- More importantly, elevated maternal blood Phe is particularly relatedto the embryogenesis of heart defects (Lenke 1980).These effects may be prevented with proper nutritional supplements and management of blood Phe levels prior to and throughout pregnancy (Widaman 2003, Langendonk 2012).The suggested target range for blood Phe is 120-360μmol/L, as established by the Maternal Phenylketonuria Collaborative Study (MPKUCS) (Koch 2003, Andersson 2013). (researchsquare.com)
Phenylalanine hydroxylase1
- The gene associated with phenylketonuria is PAH which encodes for the protein phenylalanine hydroxylase. (tu-muenchen.de)
Babies3
- Phenylketonuria affects about 1 in 12,000 babies. (wikipedia.org)
- Phenylketonuria (fen-ul-kee-tuh-NUR-ee-uh), or PKU, is a metabolic disorder that some babies are born with. (akronchildrens.org)
- Babies who are born with Phenylketonuria inherit this genetic disease from their parents. (firstcry.com)
Amino acid metab2
- Phenylketonuria (PKU) is a type of amino acid metabolism disorder . (medlineplus.gov)
- Phenylketonuria is a common amino acid metabolism disease. (lifeistopic.com)
Inborn1
- Phenylketonuria (PKU) is an inborn error of metabolism that results in decreased metabolism of the amino acid phenylalanine. (wikipedia.org)
Adults1
- Is it necessary to routinely measure levels of blood phenylalanine in adults with a history of phenylketonuria (PKU)? (clinicaladvisor.com)
Urine1
- Some of the excess phenylalanine is metabolized to phenylketones, which are excreted in the urine, giving rise to the term phenylketonuria. (merckmanuals.com)
Disorder7
- Phenylketonuria is an inherited genetic disorder. (wikipedia.org)
- Phenylketonuria (PKU) is an inherited disorder caused by excess of phenylalanine in the blood, which can lead to severe intellectual disabilities. (medgadget.com)
- Phenylketonuria (PKU) is an inherited metabolic disorder in which the amino acid phenylalanine cannot be metabolized normally. (britannica.com)
- A very uncommon genetic disorder that is always inherited is phenylketonuria-or PKU in short. (elmaskincare.com)
- Therefore, can autosomal testing determine that phenylketonuria is a genetic disorder? (lifeistopic.com)
- Ferguson, 24, has a very rare metabolic disorder, called phenylketonuria, also known as PKU that makes it nearly impossible to break down protein. (hunewsservice.com)
- The genetic metabolic disorder, Phenylketonuria (PKU), is primarily caused due to the body's inability to process the essential amino acid, phenylalanine. (gimtravel.com)
Genetic disease1
- Is phenylketonuria a genetic disease? (lifeistopic.com)
Medications1
- On the basis of product, the Phenylketonuria market is primarily split into: Medications and , Supplements. (medgadget.com)
Evaluate1
- 18 years) affected with Phenylketonuria (PKU) and to evaluate the effect of diet and exercise on bone mineral density (BMD). (umn.edu)
Metabolism1
- After all, in addition to phenylketonuria, we should also pay attention to abnormal gene metabolism what is pku. (lifeistopic.com)
Baby's1
- A simple blood test looks for rare conditions, including phenylketonuria (PKU), which can harm your baby's growing brain . (webmd.com)
Lifelong1
- The control of phenylketonuria levels is a lifelong process. (webmd.com)
Test5
- In most cases, a repeat test should be done at approximately two weeks of age to verify the initial test and uncover any phenylketonuria that was initially missed. (wikipedia.org)
- Phenylketonuria (PKU) test, also known as PKU newborn screening or PKU metabolic screening, is one of the most common newborn tests performed in the United States. (firstcry.com)
- What Is the Phenylketonuria (PKU) Test? (firstcry.com)
- The Phenylketonuria (PKU) Test is performed to check if the newborn has PKU. (firstcry.com)
- This test allows more than 20 diseases to be diagnosed, and fortunately phenylketonuria is one of them. (clinicbarcelona.org)
Factors1
- The genetic factors of phenylketonuria are well understood. (lifeistopic.com)
Intellectual disabilities1
- The ability to detect PKU is one of the triumphs of preventive medicine because serious intellectual disabilities can be prevented by simply having the person with phenylketonuria avoid certain foods and beverages. (britannica.com)
Children2
- Most children with phenylketonuria are normal at birth but develop symptoms and signs slowly over several months as phenylalanine accumulates. (merckmanuals.com)
- Especially people who are consanguineous, children are more likely to develop phenylketonuria. (lifeistopic.com)
Forecast1
- DelveInsight's "Phenylketonuria (PKU) - Epidemiology Forecast, 2028" report provides a comprehensive analysis of the Phenylketonuria (PKU) epidemiology, providing the historical and forecasted data for the 7MM during the forecast period from 2016-2028. (valuates.com)
Clinical1
- The phenylketonuria pipeline already had one project on clinical hold, and now it has another: Homology Medicines' HMI-102 on Friday joined Biomarin's BMN 307 in attracting scrutiny from the FDA. (evaluate.com)
Individuals1
- Our goal is to support individuals and families living with Phenylketonuria across the UK. (nspku.org)
Health3
- How Do Health Care Providers Diagnose Phenylketonuria (PKU)? (medlineplus.gov)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development: "What are common treatments for phenylketonuria (PKU)? (webmd.com)
- If your child has phenylketonuria, work with the health care team to help keep phenylalanine levels in an acceptable range. (akronchildrens.org)