Phenylketonurias - Blood
Research News and Information

Sunday, November 22, 2009

Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria.

29 Sep 2009 BACKGROUND: In phenylketonuria (PKU), protein substitute is an essential part of dietary treatment. Short-term studies have demonstrated that liquid protein substitutes (LPS) are efficacious, and improve compliance in teenagers and adults with PKU, ... Read more...

Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control.

8 Jun 2009 Tetrahydrobiopterin (BH(4)) cofactor loading is a standard procedure to differentiate defects of BH(4) metabolism from phenylalanine hydroxylase (PAH) deficiency. BH(4) responsiveness also exists in PAH-deficient patients with high residual PAH ... Read more...

[HPLC for the diagnosis and monitoring of phenylketonuria and ketoaciduria]

29 Apr 2009 A simple, rapid, and sensitive HPLC is proposed to test six amino acids in plasma/serum. Deproteinization was carried out with acetonitrile; derivation was made with the orthophthalic aldehyde 2-mercaptoethanol. Separation was accompanied on a ... Read more...

Latest indexed articles for 'Phenylketonurias - Blood'

These are the very latest articles for this heading:

• Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria. 29 Sep 2009
• In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). 30 Jul 2009
• Blood phenylalanine concentrations in patients with PAH-deficient hyperphenylalaninaemia off diet without and with three different single oral doses of tetrahydrobiopterin: assessing responsiveness in a model of statistical process control. 8 Jun 2009
• [HPLC for the diagnosis and monitoring of phenylketonuria and ketoaciduria] 29 Apr 2009
• Dietary management practices in phenylketonuria across European centres. 8 Apr 2009
• Assessment of mitochondrial respiratory chain function in hyperphenylalaninaemia. 11 Mar 2009
• Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study. 2 Mar 2009
• Improved nutritional management of phenylketonuria by using a diet containing glycomacropeptide compared with amino acids. 23 Feb 2009
• Adults with late diagnosed PKU and severe challenging behaviour: a randomised placebo-controlled trial of a phenylalanine-restricted diet. 7 Feb 2009
• Phenylketonuria: High plasma phenylalanine decreases cerebral protein synthesis. 4 Feb 2009
• Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria. 30 Jan 2009
• Effect of short- and long-term exposition to high phenylalanine blood levels on oxidative damage in phenylketonuric patients. 18 Jan 2009
• Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? 11 Jan 2009
• Cuban neonatal screening of phenylketonuria using an ultramicro-fluorometric test. 9 Jan 2009
• Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU. 8 Jan 2009
• Maternal phenylketonuria. 30 Dec 2008
• [Did the change of technique of screening investigations influence on improvement of test credibility in recognizing and differentiating diagnostics of hiperphenylalaninemias?] 30 Dec 2008
• Effect of BH(4) supplementation on phenylalanine tolerance. 7 Dec 2008
• Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. 13 Nov 2008
• Long-term compliance with a novel vitamin and mineral supplement in older people with PKU. 20 Oct 2008

See a longer list of these articles.

Technical information about 'Phenylketonurias'

Definition: A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952).

Descriptor UI: D010661

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

Related Mesh Headings: Phenylalanine Hydroxylase;

Allowable Qualifiers: blood; cerebrospinal fluid; chemically induced; classification; complications; diagnosis; diet therapy; drug therapy; economics; embryology; enzymology; ethnology; etiology; genetics; history; immunology; metabolism; microbiology; mortality; nursing; epidemiology; parasitology; pathology; physiopathology; prevention & control; psychology; radiography; radionuclide imaging; radiotherapy; rehabilitation; surgery; therapy; urine; veterinary; ultrasonography; virology;

Tree Number: C10.228.140.163.100.687; C16.320.565.100.766; C16.320.565.189.687; C18.452.132.100.687; C18.452.648.100.766; C18.452.648.189.687;

History Note: 2000(1974)

Technical Notes: GEN: prefer specifics; note X refs: consider also PHENYLALANINE HYDROXYLASE /defic and DIHYDROPTERIDINE REDUCTASE /defic; DF: PKU