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Sign In or Create an Account. Sign In. Advanced Search. Search Menu. Article Navigation. Close mobile search navigation Article Navigation. Volume Article Contents Abstract. Materials and methods. Supplementary Material. Secondary BH 4 deficiency links protein homeostasis to regulation of phenylalanine metabolism. Anna Eichinger , Anna Eichinger. Oxford Academic. Marta K Danecka. Julia Borsch. Mathias Woidy. Ania C Muntau. Revision received:.
Select Format Select format. Permissions Icon Permissions. Abstract Metabolic control of phenylalanine concentrations in body fluids is essential for cognitive development and executive function. Figure 1. Open in new tab Download slide.
WT 10 — 45— p. ValAla 75 — 44— p. PheSer n. Open in new tab. Table 2. PheSer 0 l -Phe a n. Figure 2. Figure 3. Human phenylalanine hydroxylase gene expression in kidney and other nonhepatic tissues.
Google Scholar Crossref. Search ADS. Human phenylalanine hydroxylase is activated by H2O2: a novel mechanism for increasing the L-tyrosine supply for melanogenesis in melanocytes. Google Scholar PubMed. In vitro expression of 34 naturally occurring mutant variants of phenylalanine hydroxylase: correlation with metabolic phenotypes and susceptibility toward protein aggregation.
Phenylketonuria Scientific Review Conference: state of the science and future research needs. In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Modulation by pterins of the phosphorylation and phenylalanine activation of phenylalanine 4-mono-oxygenase. Thermodynamic characterization of the binding of tetrahydropterins to phenylalanine hydroxylase. Activation of phenylalanine hydroxylase induces positive cooperativity toward the natural cofactor. Fluctuations in phenylalanine concentrations in phenylketonuria: a review of possible relationships with outcomes.
Coordinate regulation of tetrahydrobiopterin turnover and phenylalanine hydroxylase activity in rat liver cells. Spectroscopic investigation of ligand interaction with hepatic phenylalanine hydroxylase: evidence for a conformational change associated with activation. Activation of phenylalanine hydroxylase: effect of substitutions at Arg68 and Cys Direct evidence for a phenylalanine site in the regulatory domain of phenylalanine hydroxylase.
Domain movements upon activation of phenylalanine hydroxylase characterized by crystallography and chromatography-coupled small-angle X-ray scattering. Regulation of rat liver phenylalanine hydroxylase. Studies on the regulatory properties of the pterin cofactor and dopamine bound at the active site of human phenylalanine hydroxylase.
If a person has one normal copy and one faulty copy of the PKU gene, they are called carriers. Carriers of PKU are healthy because the normal copy overrides the faulty gene. This means the cells produce enough enzymes to prevent the build-up of phenylalanine. When both parents are carriers of the faulty PKU gene, their child will be born with PKU if they receive one copy of the faulty gene from each parent.
When both parents are carriers, the possibilities in each pregnancy are:. A baby with PKU will need to be on a special milk formula. As the child gets older, they will need a diet that is low in phenylalanine. Regular blood tests are needed to monitor the level of phenylalanine in the blood.
This special diet is essential during childhood to prevent damage to the brain while it is still growing. The diet should be continued throughout life to optimise school performance, concentration and the ability to think clearly. This page has been produced in consultation with and approved by:. During fetal development, the diaphragm or abdominal wall may fail to properly fuse, allowing the abdominal organs to protrude. The characteristic features of Angelman syndrome are not always obvious at birth, but develop during childhood.
Children should always be closely supervised near animals and taught how to behave safely around pets. You can help your child overcome anxiety by taking their fears seriously and encouraging them to talk about their feelings. Pregnant women with asthma need to continue to take their asthma medication as it is important to the health of both mother and baby that the mother's asthma is well managed.
Content on this website is provided for information purposes only. Information about a therapy, service, product or treatment does not in any way endorse or support such therapy, service, product or treatment and is not intended to replace advice from your doctor or other registered health professional. Unsuccessful treatment of phenylketonuria with tyrosine. Untreated non-phenylketonuric-hyperphenylalaninaemia: intellectual and neurological outcome.
Your documents are now available to view. Confirm Cancel. From the journal Journal of Pediatric Endocrinology and Metabolism. Cite this. You currently have no access to view or download this content. Please log in with your institutional or personal account if you should have access to this content through either of these.
Showing a limited preview of this publication:. Methods We performed four complementary investigations: 1 Tyr concentrations were monitored in patients Keywords: amino acids supplementation ; diet ; phenylalanine ; phenylketonuria ; tyrosine.
Received: Accepted: Published Online: Published in Print: Article Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria Francesco Porta, Sara Giorda, Alberto Ponzone, Marco Spada Porta, F. Tyrosine metabolism in health and disease: slow-release amino acids therapy improves tyrosine homeostasis in phenylketonuria.
Journal of Pediatric Endocrinology and Metabolism , 33 12 , Journal of Pediatric Endocrinology and Metabolism, Vol. Journal of Pediatric Endocrinology and Metabolism. Copy to clipboard. Log in Register. Volume 33 Issue This issue. All issues.
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