Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency

• Published in: The Lancet (British edition) Vol. 358; no. 9287; pp. 1063 - 1064
• Main Authors: Pourfarzam, Morteza, Morris, Andrew, Appleton, Marie, Craft, Alan, Bartlett, Kim
• Format: Journal Article
• Language: English
• Published: London Elsevier Ltd 29.09.2001; Lancet; Elsevier Limited
• Subjects: Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases - blood; Acyl-CoA Dehydrogenases - deficiency; Age; Biological and medical sciences; Carnitine - analogs & derivatives; Carnitine - blood; Chains; Dehydrogenase; Dehydrogenases; Disorders of blood lipids. Hyperlipoproteinemia; Fatty acids; Humans; Hypoglycemia; Infant, Newborn; Mass spectrometry; Medical research; Medical sciences; Medical screening; Metabolic diseases; Morbidity; Mutation; Neonatal care; Neonatal Screening - methods; Neonates; Patients; Retrospective Studies; Scientific imaging; Screening; United Kingdom; Urine; England; United Kingdom > UK; Australia; United States > US; Germany; Human; Hypolipemia; Enzyme; Deficiency; Metabolic diseases; Lipids; Medium chain; Medical screening; Enzymopathy; Acyl-CoA dehydrogenase; Genetic disease; Newborn diseases; Newborn; Oxidoreductases
• ISSN: 0140-6736; 1474-547X
• DOI: 10.1016/S0140-6736(01)06199-2

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency has not yet been introduced in the UK, primarily because of uncertainty about the natural history of the disorder and concerns about the specificity of the screening test. To obtain data on these issues, we did a retrospective study in which we analysed the concentrations of acylcarnitines in stored neonatal blood spots, and reviewed patients with high octanoylcarnitine concentrations at age 7–9 years. The high morbidity and mortality associated with the disorder, and the specificity of acylcarnitine analysis seen in our study support the introduction of screening for MCAD deficiency.