Phenylketonuria Awareness Month - May 4, 2015

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Phenylketonuria

Phenylketonuria Awareness Month - May 4, 2015

CDC Info

• Importance of newborn screening
• CDC Newborn Screening Quality Assurance Program includes phenylketonuria

CDC information:Importance of newborn screening

National Institutes of Health (NIH) review of evidence in phenylalanine hydroxylase deficiency (phenylketonuria) and recommendations/guidelines for therapy from the American College of Medical Genetics (ACMG) and Genetics Metabolic Dietitians International (GMDI).
Greene CL et al. Mol. Genet. Metab. 2014 Jun (2) 85-6

Phenylketonuria scientific review conference: state of the science and future research needs.
Camp KM et al. Mol. Genet. Metab. 2014 Jun (2) 87-122

Bone health in phenylketonuria: a systematic review and meta-analysis.
Demirdas S et al. Orphanet J Rare Dis 2015 (1) 17

Protein substitute for children and adults with phenylketonuria.
Yi SH L et al. Cochrane Database Syst Rev 2015 CD004731

New strategies for the treatment of Phenylketonuria (PKU).
Strisciuglio P et al. Metabolites 2014 (4) 1007-17

A systematic review of bone mineral density and fractures in phenylketonuria.
Hansen KE et al. J. Inherit. Metab. Dis. 2014 Nov (6) 875-80

Parental strategies to help children with phenylketonuria (PKU) cope with feeling different.
Zwiesele S et al. Am. J. Med. Genet. A 2015 Apr 29.

Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.
Aguiar A et al. Mol. Genet. Metab. 2015 Mar 26.

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.
Scala I et al. Orphanet J Rare Dis 2015 (1) 14

Maternal phenylketonuria: Long-term outcomes in offspring and post-pregnancy maternal characteristics.
Waisbren SE et al. JIMD Rep 2015 Feb 25.

Alternative therapies to address the unmet medical needs of patients with phenylketonuria.
Blau N et al. Expert Opin Pharmacother 2015 Apr (6) 791-800

Hyperphenylalaninemia and the genomic revolution.
Rajabi F et al. Mol. Genet. Metab. 2015 Mar (3) 380-1

A randomized, placebo-controlled, double-blind study of sapropterin to treat ADHD symptoms and executive function impairment in children and adults with sapropterin-responsive phenylketonuria.
Burton B et al. Mol. Genet. Metab. 2015 Mar (3) 415-24

Management of adult patients with phenylketonuria: survey results from 24 countries.
Trefz FK et al. Eur. J. Pediatr. 2015 Jan (1) 119-27

Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.
Cazzorla C et al. BMC Public Health 2014 1243

Phenylketonuria, Newborn Screening, Diagnosis & Management - January 16, 2014

American College of Medical Genetics and Genomics: Phenylalanine hydroxylase deficiency: diagnosis and management guideline, Genetics in Medicine, January 2, 2014

Systematic review: Nutrition management of phenylalanine hydroxylase deficiency. 
Rani H. Singh et al. Genetics in Medicine, January 2, 2014

What is Phenylketonuria (PKU)? From the National Human Genome Research Institute

Phenylalanine hydroxylase deficiency
John J Mitchell, GeneReviews, 2013 

CDC Newborn Screening Quality Assurance Program includes phenylketonuria

The political history of PKU: Reflections on 50 years of newborn screening. 
Jeffrey P. Brosco and Diane B. Paul, Pediatrics, December 2013