Elevated phenylalanine on newborn screening: Follow-up testing may reveal undiagnosed galactosaemia

Annals of Clinical Biochemistry

Volumn 47, Issue 6, 2010, Pages 567-569

  Shakespeare, Lynette ^a   Downing, Melanie ^a   Allen, Joyce ^a   Casbolt, Ann Marie ^a   Ellin, Sheila ^a   Maloney, Martin ^a   Race, Gillian ^a   Bonham, Jim ^a  

^a SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOPTERIN; PHENYLALANINE;

ARTICLE; EARLY DIAGNOSIS; FOLLOW UP; GALACTOSEMIA; HUMAN; HYPERPHENYLALANINEMIA; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PATIENT REFERRAL; PHENYLKETONURIA; PRIORITY JOURNAL; TYROSINEMIA; UNITED KINGDOM;

GALACTOSEMIAS; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PHENYLALANINE; PHENYLKETONURIAS;

EID: 78449282421     PISSN: 00045632     EISSN: 00045632     Source Type: Journal    
DOI: 10.1258/acb.2010.010083     Document Type: Article

References (3)

1. Newborn Screening Programme Centre. Phenylketonuria: Initial Clinical Referral Guidelines and Standards. Newborn Blood Spot Screening in the UK, Policies and Standards, April 2005, UK, See www.newbornbloodspot.screening.nhs. uk (last checked 21 September 2010)
2. Pollitt RJ, Worthy E, Green A. Galactosaemia detection as a bonus from screening for phenylketonuria. J Inherit Metab Dis 1982;5(Suppl. 1):51-2
3. Honeyman MM, Green A, Holton JB, Leonard JV. Galactosaemia: results of the British Paediatric Surveillance Unit study, 1988-90. Arch Dis Child 1993;69:339-41