Document Detail


Delayed diagnosis of phenylketonuria - a case report of two siblings.
MedLine Citation:
PMID:  24097808     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
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.
Authors:
Deepa Narayanan; Robert Barski; Mick J Henderson; Ahai Luvai; Deepak Chandrajay; Collette Stainforth; Jacqueline Bradley; Hazel Rogozinski; Reena Sharma
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2013-10-4
Journal Detail:
Title:  Annals of clinical biochemistry     Volume:  -     ISSN:  1758-1001     ISO Abbreviation:  Ann. Clin. Biochem.     Publication Date:  2013 Oct 
Date Detail:
Created Date:  2013-10-7     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0324055     Medline TA:  Ann Clin Biochem     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Affiliation:
Adult Inherited Metabolic Disease Clinic, St Luke's Hospital, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
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