GP48 German newborn screening programme identifies first case of MCADD in an irish traveller child in the ROI. (June 2019)

• Record Type: Journal Article
• Authors: Mahomed, Husnain; O'Reilly, Peter; Martin, Therese; Hughes, Joanne; Murphy, Anne Marie
• Is Part Of: Archives of disease in childhood. Volume 104:(2019)Supplement 3
• Page Start: A49
• Page End: A49
• Publication Date: 2019-06
• Subjects: Children -- Diseases -- Periodicals; Infants -- Diseases -- Periodicals; 618.920005
• DOI: 10.1136/archdischild-2019-epa.114
• Languages: English
• ISSNs: 0003-9888

Abstract

Abstract : Aim/Purpose: To report the first case of Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in an Irish Traveller child in the Republic of Ireland (ROI). Methodology: We describe the clinical presentation, outcome to date and genotype of a now 8 month old female infant from the Irish Traveller Community who was identified through newborn screening in Germany where she was born. Results: An 8 month old girl from the Irish Traveller Community returned to Ireland and was referred to local Paediatric services by her family doctor having been diagnosed with MCADD on the National Newborn Screening Programme in Germany. Her mother had travelled to Germany for a wedding and developed placenta praevia. It was felt that it was too dangerous for her to travel back to Ireland at the time. The child was born at term by spontaneous vaginal delivery.She had a positive newborn screening test for MCADD. .Subsequent metabolic tests confirmed this diagnosis. On assessment at 8 months of age she was found to be robust, thriving with normal neurodevelopment. There have been no incidents of infection or hypoglycaemia. She has not required hospitalisation. Vaccines are up to date with no adverse incidents. She was found to have the common p.(Lys329Glu), c.985A>G pathogenic mutation of the ACADM gene. Conclusions: This case highlights the success of the newborn screening programme in Germany and early medical intervention in MCADD. To our knowledge this is the first confirmed case of this recessive disorder in the highly consanginous Irish Traveller community in the ROI.