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One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure

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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.

The Cochrane Database of Systematic Reviews

|October 2, 2015

Summary

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.

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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.