ScholarLens Back to search
2015•Archives of Disease in Childhood Education & PracticeRequires access

Update on expanded newborn screening

Hannah Jacob

Open publisher page 2 citations

Abstract

In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

About this research paper

What this paper is about

In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Why it matters

OpenAlex reports 2 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

In January 2015, the National Health Service Newborn Blood Spot Screening Programme in England was expanded to include four additional diseases: maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1) and homocystinuria (pyridoxine-non-responsive type). The UK National Screening Committee recommended the addition of these inherited metabolic conditions following a pilot study in England. They now form part of routine newborn screening, along with testing for phenylketonuria, cystic fibrosis, sickle cell disease, congenital hypothyroidism and medium-chain acyl-CoA dehydrogenase deficiency (MCADD).

Key concepts: Newborn screening, Maple syrup urine disease, Homocystinuria, Medicine, Pediatrics, Pyridoxine, Cystic fibrosis, Congenital hypothyroidism

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
Update on expanded newborn screening — Research Paper | ScholarLens