Related Experiment Video
Updated: Apr 1, 2026
One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
Published on: June 25, 2010
Newborn screening for homocystinuria
John H Walter1, Nikki Jahnke, Tracey Remmington
1Willink Biochemical Genetics Unit, Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital, Oxford Road, Manchester, UK, M13 9WL.
Insights
Newborn screening for homocystinuria (a rare inherited disorder) is not supported by controlled studies. Uncontrolled data suggest benefits, but more research is needed to confirm efficacy and cost-effectiveness.
Area of Science:
- Medical Genetics
- Metabolic Disorders
- Public Health Screening
Background:
- Homocystinuria is a rare inherited metabolic disorder caused by cystathionine beta-synthase deficiency.
- Affected individuals appear normal at birth but develop severe complications later in childhood.
- Early diagnosis and treatment are crucial for preventing or mitigating these complications.
Purpose of the Study:
- To evaluate the clinical benefits of newborn population screening for homocystinuria compared to later clinical diagnosis.
- To determine if early diagnosis through screening improves patient outcomes.
Main Methods:
- Systematic review of randomized controlled trials (RCTs) and controlled clinical trials.
- Searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.
- Included studies comparing screened versus non-screened infant populations for homocystinuria.
Main Results:
- No eligible randomized controlled trials or controlled clinical trials were identified for inclusion.
- The review could not identify studies meeting the inclusion criteria.
Conclusions:
- No conclusions could be drawn from controlled studies due to the lack of eligible research.
- Uncontrolled case series suggest newborn screening for homocystinuria and early treatment are effective.
- Future multicenter, long-term RCTs are needed to provide robust evidence on screening efficacy and cost-effectiveness.
Background:
Homocystinuria is a rare inherited disorder due to a deficiency in cystathionine beta synthase. Individuals with this condition appear normal at birth but develop serious complications in childhood. Diagnosis and treatment started sufficiently early in life can effectively prevent or reduce the severity of these complications. This is an update of a previously published review.
Objectives:
To determine if newborn population screening for the diagnosis of homocystinuria due to cystathionine beta synthase deficiency leads to clinical benefit compared to later clinical diagnosis.
Search Methods:
We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Inborn Errors of Metabolism Trials Register.Date of the most recent search of the Inborn Errors of Metabolism Register: 08 June 2015.
Selection Criteria:
Randomised controlled trials and controlled clinical trials assessing the use of any neonatal screening test to diagnose infants with homocystinuria before the condition becomes clinically evident. Eligible studies compare a screened population versus a non-screened population.
Data Collection And Analysis:
No studies were identified for inclusion in the review.
Main Results:
No studies were identified for inclusion in the review.
Authors' Conclusions:
We were unable to identify eligible studies for inclusion in this review and hence it is not possible to draw any conclusions based on controlled studies; however, we are aware of uncontrolled case-series which support the efficacy of newborn screening for homocystinuria and its early treatment. Any future randomised controlled trial would need to be both multicentre and long term in order to provide robust evidence for or against screening and to allow a cost effectiveness analysis to be undertaken.
Related Concept Videos
01:20Inborn Errors of Metabolism
01:23Amines to Sulfonamides: The Hinsberg Test
Generally, a primary amine reacts with the Hinsberg reagent to produce an N-substituted benzenesulfonamide. The electron-withdrawing sulfonyl...