• Users Online: 412
  • Print this page
  • Email this page
REVIEW FOR THE SHEIKH HAMDAN BIN RASHID AL MAKTOUM AWARD FOR MEDICAL SCIENCES
Year : 2012  |  Volume : 5  |  Issue : 3  |  Page : 351-362

Classical homocystinuria: newborn screening with early treatment effectively prevents complications


National Centre for Inherited Metabolic Disorders, Children's University Hospital, Temple Street, Dublin, Ireland; Division of Inherited Metabolic Diseases, Department of Paediatrics and University Malaya Medical Centre, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia; Sheffield Children's Hospital, Sheffield Children's NHS Trust, Sheffield, UK

Correspondence Address:
Sufin Yap
Sheffield Children's Hospital, Sheffield Children's NHS Trust, Sheffield S10 2TH

Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.7707/hmj.v5i3.191

Rights and Permissions

Classical homocystinuria (HCU) due to cystathionine β-synthase deficiency is an inherited disorder of methionine metabolism. HCU has a reported worldwide prevalence ranging from 1 in 344 000 to 1 in 65 000 in Ireland. Molecular studies indicate a much higher incidence of between 1 in 6500–20 000 and as high as 1 in 1800 in a highly consanguinous Qatari population. Recognized complications from the untreated disease affect four major systems: ocular (ectopia lentis), skeletal (osteoporosis), vascular (thromboembolic events) and central nervous systems (intellectual disabilities). The natural history is such that 82% will have ectopia lentis by the age of 10 years, 27% will have had a clinically detected thromboembolic event by the age of 15 years, 64% will have radiological evidence of spinal osteoporosis by the age of 15 years and 23% will not survive to the age of 30 years. Long-term outcome studies on a group of Irish patients detected by newborn screening and commenced on early treatment document that homocysteine-lowering treatment is effective in preventing complications and normal intelligence is achieved. Vascular events are the major cause of morbidity and mortality. The results from a multicentre study show that homocysteine-lowering therapy is effective in significantly reducing the vascular risk during treatment. In the half-century since its discovery in 1962, homocystinuria with its devastating complications has been discovered to be a treatable condition, with the best possible clinical outcome in cases detected early by newborn screening.


[PDF]*
Print this article     Email this article
 Next article
 Previous article
 Table of Contents

 Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed264    
    Printed36    
    Emailed0    
    PDF Downloaded49    
    Comments [Add]    
    Cited by others 3    

Recommend this journal