Phenylketonurias
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...

Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication.

29 Sep 2009 Nutrition and drugs are main environmental factors that affect metabolism. We performed metabolomics of urine from an 8-year-old patient (case 1) with epilepsy and an 11-year-old patient (case 2) with malignant lymphoma who was being treated with ... Read more...

Sapropterin: a new therapeutic agent for phenylketonuria.

2 Aug 2009 OBJECTIVE: To summarize the role of pharmacotherapy in the management of phenylketonuria (PKU) and to review the pharmacology, pharmacokinetics, pharmacodynamics, efficacy data, and safety profile of sapropterin for this indication. DATA SOURCES: A ... Read more...

Latest indexed articles for 'Phenylketonurias'

These are the very latest articles for this heading:

• Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria. 29 Sep 2009
• Urinary metabolic profile of phenylketonuria in patients receiving total parenteral nutrition and medication. 29 Sep 2009
• Sapropterin: a new therapeutic agent for phenylketonuria. 2 Aug 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
• Expanded newborn screening: an update for pediatricians. 30 Jul 2009
• Phenylketonuria in Tunisian institutions for the mentally handicapped. 30 Jul 2009
• Cell encapsulation as a potential nondietary therapy for maternal phenylketonuria. 22 Jul 2009
• Metabolic phenotypes of phenylketonuria. Kinetic and molecular evaluation of the Blaskovics protein loading test. 14 Jul 2009
• Neonatal screening for congenital hypothyroidism and phenylketonuria in China. 7 Jul 2009
• Reproducibility of cerebral phenylalanine levels in patients with phenylketonuria determined by 1H-MR spectroscopy. 29 Jun 2009
• Determination of marker pteridins and biopterin reduced forms, tetrahydrobiopterin and dihydrobiopterin, in human urine, using a post-column photoinduced fluorescence liquid chromatographic derivatization method. 22 Jun 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
• Determination of phenylalanine in blood by high-performance anion-exchange chromatography-pulsed amperometric detection to diagnose phenylketonuria. 5 Jun 2009
• Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples. 3 Jun 2009
• Newborn screening for genetic disorders. 30 May 2009
• Adults with late diagnosed PKU and severe challenging behaviour. 30 May 2009
• Large neutral amino acids supplementation in phenylketonuric patients. 11 May 2009
• Detection of phenylketonuria by the newborn screening program in Thailand. 29 Apr 2009
• Purification and use of glycomacropeptide for nutritional management of phenylketonuria. 29 Apr 2009
• [HPLC for the diagnosis and monitoring of phenylketonuria and ketoaciduria] 29 Apr 2009

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