Phenylketonuria Research Today is a free monthly online journal that collates and summarizes the latest research about Phenylketonuria, including details on genetics, causes, symptoms, hereditary disorder.
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype.
Anjema K, van Rijn M, Hofstede FC, Bosch AM, Hollak CE, Rubio-Gozalbo E, de Vries MC, Janssen MC, Boelen CC, Burgerhof JG, Blau N, Heiner-Fokkema MR, van Spronsen FJ
Published 11 July 2013 in Orphanet J Rare Dis, 8(1): 103.
Articles on Phenylketonuria published 10 July 2013:
Cognitive findings and behavior in children and adolescents with phenylketonuria. J Dev Behav Pediatr, 34(6): 392-8.
Articles on Phenylketonuria published 8 July 2013:
Controlled Diet in Phenylketonuria and Hyperphenylalaninemia may Cause Serum Selenium Deficiency in Adult Patients: The Czech Experience. Biol Trace Elem Res, 154(2): 178-84.
Phenylketonuria is an inherited disorder of metabolism of the amino acid phenylalanine caused by a deficit of the enzyme phenylalanine hydroxylase. It is treated with a low-protein diet containing a low content of phenylalanine to prevent mental affection of the patient. Because of the restricted intake of high-biologic-value protein, patients with phenylketonuria may have lower than normal serum concentrations of pre-albumin, selenium, zinc and iron. The objective of the present study was to ... [Abstract] [Full-text]
Articles on Phenylketonuria published 5 July 2013:
The mainstream of phenylketonuria (PKU) management is lifelong restriction of protein intake; however, this dietary restriction may be accompanied by insufficient dietary intake of long-chain polyunsaturated fatty acids (LCPUFA). The objective of this review was to assess whether significant depletion of LCPUFA can be detected in PKU patients on low-protein diet and whether LCPUFA supplementation is an effective way to increase the availability of LCPUFA in PKU patients. The method included ... [Abstract] [Full-text]
The neuropsychiatry of inborn errors of metabolism. J Inherit Metab Dis, 36(4): 687-702.
A number of metabolic disorders that affect the central nervous system can present in childhood, adolescence or adulthood as a phenocopy of a major psychiatric syndrome such as psychosis, depression, anxiety or mania. An understanding and awareness of secondary syndromes in metabolic disorders is of great importance as it can lead to the early diagnosis of such disorders. Many of these metabolic disorders are progressive and may have illness-modifying treatments available. Earlier diagnosis may ... [Abstract] [Full-text]
Impact of new screening technologies: should we screen and does phenotype influence this decision? J Inherit Metab Dis, 36(4): 681-6.
The early detection offered by newborn screening for phenylketonuria clearly demonstrates the benefits for patients with inherited metabolic disorders of well organised screening programmes. It is therefore perhaps surprising that 20 years after the introduction of electrospray MS/MS methods to support expanded newborn screening that considerable international variation in practice, not linked to economic factors, exists. It is likely that the commonly used criteria to assess the suitability ... [Abstract] [Full-text]
Articles on Phenylketonuria published 2 July 2013:
Tyrosine supplementation for phenylketonuria. Cochrane Database Syst Rev, 6: CD001507.
Articles on Phenylketonuria published 1 July 2013:
Articles on Phenylketonuria published 28 June 2013:
© 2005-2013 Phenylketonuria Research Today. All Rights Reserved.