Delayed diagnosis of phenylketonuria – a case report of two siblings. (May 2014)

• Record Type: Journal Article
• Authors: Narayanan, Deepa; Barski, Robert; Henderson, Mick J; Luvai, Ahai; Chandrajay, Deepak; Stainforth, Collette; Bradley, Jacqueline; Rogozinski, Hazel; Sharma, Reena
• Is Part Of: Annals of clinical biochemistry. Volume 51:Number 3(2014:May)
• Page Start: 406
• Page End: 408
• Publication Date: 2014-05
• Subjects: Neurological disorders -- inborn errors of metabolism -- mass spectrometry; Clinical chemistry -- Periodicals; Clinical biochemistry -- Periodicals; 616.075
• DOI: 10.1177/0004563213503818
• Languages: English
• ISSNs: 0004-5632

Abstract

Phenylketonuria (PKU), is an autosomal recessive condition affecting the amino acid metabolism. The UK National newborn screening programme was commenced in 1969 and PKU is one among the five conditions included in the screening programme. We present the case history of two siblings of a family with a delayed diagnosis of PKU. This case history highlights such an occurrence. PKU should be considered as an important differential in the diagnosis of adult patients with learning difficulties, seizures and behavioural problems. It would be prudent to instigate plasma and urine amino/organic acid analyses in adult patients with unexplained neuropsychological manifestations.