Phenylketonurias - Complications
Research News and Information

Sunday, November 22, 2009

Executive dysfunction in treated phenylketonuric patients.

14 Feb 2009 OBJECTIVES: Executive function deficits have been described in early and continuously treated patients with phenylketonuria (PKU). The aim of this study was to examine performance on executive function tasks of treated patients with PKU diagnosed by ... Read more...

[The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency]

30 Jan 2009 OBJECTIVE: To investigate the development of differential diagnosis of tetrahydrobiopterin (BH4) deficiency among patients with hyperphenylalaninemia (HPA) in provinces or cities of China and to investigate the incidence of BH4 deficiency. METHODS: ... Read more...

Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause?

11 Jan 2009 In phenylketonuria, mental retardation is prevented by a diet that severely restricts natural protein and is supplemented with a phenylalanine-free amino acid mixture. The result is an almost normal outcome, although some neuropsychological ... Read more...

Latest indexed articles for 'Phenylketonurias - Complications'

These are the very latest articles for this heading:

• Phenylketonuria in Tunisian institutions for the mentally handicapped. 30 Jul 2009
• Executive dysfunction in treated phenylketonuric patients. 14 Feb 2009
• [The investigation of differential diagnostic development and incidence of tetrahydrobiopterin deficiency] 30 Jan 2009
• Brain dysfunction in phenylketonuria: is phenylalanine toxicity the only possible cause? 11 Jan 2009
• Maternal phenylketonuria. 30 Dec 2008
• Response monitoring in children with phenylketonuria. 30 Dec 2008
• Adult issues in phenylketonuria. 30 Dec 2008
• Tetrahydrobiopterin deficiency in human rabies. 23 Oct 2008
• Acute hair loss in phenylketonuria. 25 Aug 2008
• [Concentration of osteoprotegerin, bone formation and resorption markers in patients with phenylketonuria] 29 Jun 2008
• Co-occurrence of vitamin D-dependent rickets type 1 and phenylketonuria. 29 Apr 2008
• Reduced availability of brain amines during critical phases of postnatal development in a genetic mouse model of cognitive delay. 14 Apr 2008
• Interpretation of plasma amino acids in the follow-up of patients: the impact of compartmentation. 29 Jan 2008
• Twenty-five years of research on neurocognitive outcomes in early-treated phenylketonuria: intelligence and executive function. 30 Dec 2007
• Successful neurological outcome of a child with classical phenylketonuria and acute lymphoblastic leukemia: a 7-year follow-up. 13 Dec 2007
• MR evidence of long T2 water in pathological white matter. 29 Sep 2007
• Use of amniotic membrane graft and corneal transplantation in a patient with bilateral keratomalacia induced by uncontrolled phenylketonuria. 30 May 2007
• Omega-3 long-chain polyunsaturated fatty acids in older children. 29 Apr 2007
• Peak bone mass in patients with phenylketonuria. 6 Mar 2007
• Phenylketonuria in pediatric neurology practice: a series of 146 cases. 30 Oct 2006

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