Phenylketonurias - Diet therapy
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...

Large neutral amino acids supplementation in phenylketonuric patients.

11 May 2009 Phenylketonuria is an inborn error of amino acid metabolism that results in severe mental retardation if not treated early and appropriately. The traditional treatment, consisting of a low-phenylalanine diet, is usually difficult to maintain ... Read more...

Detection of phenylketonuria by the newborn screening program in Thailand.

29 Apr 2009 This study evaluated the newborn screening program for phenylketonuria (PKU) in Thailand from 1996 to 2006. During the study period, 5,243,841 newborns were screened, of which 16 were confirmed to have PKU. The phenylalanine levels ranged from ... Read more...

Latest indexed articles for 'Phenylketonurias - Diet therapy'

These are the very latest articles for this heading:

• Long-term efficacy of 'ready-to-drink' protein substitute in phenylketonuria. 29 Sep 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
• Dietary management practices in phenylketonuria across European centres. 8 Apr 2009
• Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU). 27 Feb 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
• Biochemical markers associated with executive function in adolescents with early and continuously treated phenylketonuria. 30 Jan 2009
• [Genotyping and treatment modification in patients with phenylketonuria: an introduction to pharmacogenomics] 30 Dec 2008
• [Phenylketonuria] 30 Dec 2008
• Adult issues in phenylketonuria. 30 Dec 2008
• Adults with untreated phenylketonuria: out of sight, out of mind. 29 Nov 2008
• Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. 13 Nov 2008
• Nutritional management of PKU with glycomacropeptide from cheese whey. 27 Oct 2008
• Long-term compliance with a novel vitamin and mineral supplement in older people with PKU. 20 Oct 2008
• Carnitine status in early-treated children, adolescents and young adults with phenylketonuria on low phenylalanine diets. 20 Oct 2008
• Protein substitute for children and adults with phenylketonuria. 6 Oct 2008
• A survey of natural protein intake in Dutch phenylketonuria patients: insight into estimation or measurement of dietary intake. 29 Sep 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