The University of Southampton
University of Southampton Institutional Repository

Newborn screening for inborn errors of metabolism: a systematic review

Newborn screening for inborn errors of metabolism: a systematic review
Newborn screening for inborn errors of metabolism: a systematic review
Objectives: to establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism. To undertake a systematic review of the data as a basis for evaluation of newborn screening for inborn errors of metabolism. To prepare an objective summary of the evidence on the appropriateness and need for various existing and possible neonatal screening programmes for inborn errors of metabolism in relation to the natural history of these diseases. To identify gaps in existing knowledge and make recommendations for required primary research. To make recommendations for the future development and organisation of neonatal screening for inborn errors of metabolism in the UK.

How the research was conducted: there were three parts to the research. A systematic review of the literature on inborn errors of metabolism, neonatal screening programmes, new technologies for screening and economic factors. Inclusion and exclusion criteria were applied, and a working database of relevant papers was established. All selected papers were read by two or three experts and were critically appraised using a standard format. Seven criteria for a screening programme, based on the principles formulated by Wilson and Jungner (WHO, 1968), were used to summarise the evidence. These were as follows. Clinically and biochemically well-defined disorder. Known incidence in populations relevant to the UK. Disorder associated with significant morbidity or mortality. Effective treatment available. Period before onset during which intervention improves outcome. Ethical, safe, simple and robust screening test. Cost-effectiveness of screening. A questionnaire which was sent to all newborn screening laboratories in the UK. Site visits to assess new methodologies for newborn screening. The classical definition of an inborn error of metabolism was used (i.e., a monogenic disease resulting in deficient activity in a single enzyme in a pathway of intermediary metabolism).

Research findings: inborn errors of metabolism. Phenylketonuria (PKU) (incidence 1:12,000) fulfilled all the screening criteria and could be used as the 'gold standard' against which to review other disorders despite significant variation in methodologies, sample collection and timing of screening and inadequacies in the infrastructure for notification and continued care of identified patients. Of the many disorders of organic acid and fatty acid metabolism, a case can only be made for the introduction of newborn screening for glutaric aciduria type 1 (GA1; estimated incidence 1:40,000) and medium-chain acyl CoA dehydrogenase (MCAD) deficiency (estimated incidence 1:8000-1:15,000). Therapeutic advances for GA1 offer prevention of neurological damage but further investigation is required into the costs and benefits of screening for this disorder. MCAD deficiency is simply and cheaply treatable, preventing possible early death and neurological handicap. Neonatal screening for these diseases is dependent upon the introduction of tandem mass spectrometry (tandem MS). This screening could however also simultaneously detect some other commonly-encountered disorders of organic acid metabolism with a collective incidence of 1:15,000
1366-5278
1-95
Thomason, M.J.
3edb9911-f887-4c1f-9e07-df22fd993361
Lord, J.
fd3b2bf0-9403-466a-8184-9303bdc80a9a
Bain, M.D.
c738c7fa-26ba-4362-b190-dc49af60d6b2
Chalmers, A.R.
eef4956e-3ca3-4ad5-ac14-0563f35aa193
Addison, G.M.
8fbc645a-98b8-4ccb-9dc9-4bdbbbb29352
Littlejohns, P.
db1d9f2d-b601-42ff-a6fe-67232bc5ce41
Wilcox, A.H.
6b73c70b-d4ca-494a-80a6-bdf4d0248689
Cockburn, F.
f11b4403-f4f6-41b4-898c-e13b3a4bffba
Seymour, C.A.
e0d06f66-0d1b-47c8-bd41-6f4b90a3574a
Thomason, M.J.
3edb9911-f887-4c1f-9e07-df22fd993361
Lord, J.
fd3b2bf0-9403-466a-8184-9303bdc80a9a
Bain, M.D.
c738c7fa-26ba-4362-b190-dc49af60d6b2
Chalmers, A.R.
eef4956e-3ca3-4ad5-ac14-0563f35aa193
Addison, G.M.
8fbc645a-98b8-4ccb-9dc9-4bdbbbb29352
Littlejohns, P.
db1d9f2d-b601-42ff-a6fe-67232bc5ce41
Wilcox, A.H.
6b73c70b-d4ca-494a-80a6-bdf4d0248689
Cockburn, F.
f11b4403-f4f6-41b4-898c-e13b3a4bffba
Seymour, C.A.
e0d06f66-0d1b-47c8-bd41-6f4b90a3574a

Thomason, M.J., Lord, J., Bain, M.D., Chalmers, A.R., Addison, G.M., Littlejohns, P., Wilcox, A.H., Cockburn, F. and Seymour, C.A. (1997) Newborn screening for inborn errors of metabolism: a systematic review. Health Technology Assessment, 1 (11), 1-95. (doi:10.3310/hta1110). (PMID:9483156)

Record type: Article

Abstract

Objectives: to establish a database of literature and other evidence on neonatal screening programmes and technologies for inborn errors of metabolism. To undertake a systematic review of the data as a basis for evaluation of newborn screening for inborn errors of metabolism. To prepare an objective summary of the evidence on the appropriateness and need for various existing and possible neonatal screening programmes for inborn errors of metabolism in relation to the natural history of these diseases. To identify gaps in existing knowledge and make recommendations for required primary research. To make recommendations for the future development and organisation of neonatal screening for inborn errors of metabolism in the UK.

How the research was conducted: there were three parts to the research. A systematic review of the literature on inborn errors of metabolism, neonatal screening programmes, new technologies for screening and economic factors. Inclusion and exclusion criteria were applied, and a working database of relevant papers was established. All selected papers were read by two or three experts and were critically appraised using a standard format. Seven criteria for a screening programme, based on the principles formulated by Wilson and Jungner (WHO, 1968), were used to summarise the evidence. These were as follows. Clinically and biochemically well-defined disorder. Known incidence in populations relevant to the UK. Disorder associated with significant morbidity or mortality. Effective treatment available. Period before onset during which intervention improves outcome. Ethical, safe, simple and robust screening test. Cost-effectiveness of screening. A questionnaire which was sent to all newborn screening laboratories in the UK. Site visits to assess new methodologies for newborn screening. The classical definition of an inborn error of metabolism was used (i.e., a monogenic disease resulting in deficient activity in a single enzyme in a pathway of intermediary metabolism).

Research findings: inborn errors of metabolism. Phenylketonuria (PKU) (incidence 1:12,000) fulfilled all the screening criteria and could be used as the 'gold standard' against which to review other disorders despite significant variation in methodologies, sample collection and timing of screening and inadequacies in the infrastructure for notification and continued care of identified patients. Of the many disorders of organic acid and fatty acid metabolism, a case can only be made for the introduction of newborn screening for glutaric aciduria type 1 (GA1; estimated incidence 1:40,000) and medium-chain acyl CoA dehydrogenase (MCAD) deficiency (estimated incidence 1:8000-1:15,000). Therapeutic advances for GA1 offer prevention of neurological damage but further investigation is required into the costs and benefits of screening for this disorder. MCAD deficiency is simply and cheaply treatable, preventing possible early death and neurological handicap. Neonatal screening for these diseases is dependent upon the introduction of tandem mass spectrometry (tandem MS). This screening could however also simultaneously detect some other commonly-encountered disorders of organic acid metabolism with a collective incidence of 1:15,000

This record has no associated files available for download.

More information

Published date: 1997
Additional Information: ID: 3079; RP: IN FILE
Organisations: Primary Care & Population Sciences

Identifiers

Local EPrints ID: 382214
URI: http://eprints.soton.ac.uk/id/eprint/382214
ISSN: 1366-5278
PURE UUID: 4df9fe87-f962-4237-9674-d0bea4da2ee0
ORCID for J. Lord: ORCID iD orcid.org/0000-0003-1086-1624

Catalogue record

Date deposited: 22 Oct 2015 12:58
Last modified: 15 Mar 2024 03:52

Export record

Altmetrics

Contributors

Author: M.J. Thomason
Author: J. Lord ORCID iD
Author: M.D. Bain
Author: A.R. Chalmers
Author: G.M. Addison
Author: P. Littlejohns
Author: A.H. Wilcox
Author: F. Cockburn
Author: C.A. Seymour

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×