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Int. J. Neonatal Screen. 2018, 4(1), 7; doi:10.3390/ijns4010007

Aspects of Newborn Screening in Isovaleric Acidemia

Experimental Pediatrics and Metabolism, Department of General Pediatrics, Neonatology and Pediatric Cardiology, Heinrich Heine University Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany
Department of Obstetrics and Gynecology, Hospital Altötting-Burghausen, Teaching Hospital of the Ludwig-Maximilians-Universität München, Vinzenz-von-Paul-Strasse 10, 84503 Altötting, Germany
Author to whom correspondence should be addressed.
Received: 17 December 2017 / Revised: 19 January 2018 / Accepted: 22 January 2018 / Published: 29 January 2018
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Isovaleric acidemia (IVA), an inborn error of leucine catabolism, is caused by mutations in the isovaleryl-CoA dehydrogenase (IVD) gene, resulting in the accumulation of derivatives of isovaleryl-CoA including isovaleryl (C5)-carnitine, the marker metabolite used for newborn screening (NBS). The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes were known, an “acute neonatal” and a “chronic intermittent” form. An additional biochemically mild and potentially asymptomatic form of IVA and its association with a common missense mutation, c.932C>T (p.A282V), was discovered in subjects identified through NBS. Deficiency of short/branched chain specific acyl-CoA dehydrogenase (2-methylbutyryl-CoA dehydrogenase), a defect of isoleucine degradation whose clinical significance remains unclear, also results in elevated C5-carnitine, and may therefore be detected by NBS for IVA. Treatment strategies for the long-term management of symptomatic IVA comprise the prevention of catabolism, dietary restriction of natural protein or leucine intake, and supplementation with l-carnitine and/or l-glycine. Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required. View Full-Text
Keywords: isovaleric acidemia; newborn screening; blood C5-carnitine; mild phenotype; short/branched chain specific acyl-CoA dehydrogenase isovaleric acidemia; newborn screening; blood C5-carnitine; mild phenotype; short/branched chain specific acyl-CoA dehydrogenase

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MDPI and ACS Style

Schlune, A.; Riederer, A.; Mayatepek, E.; Ensenauer, R. Aspects of Newborn Screening in Isovaleric Acidemia. Int. J. Neonatal Screen. 2018, 4, 7.

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Int. J. Neonatal Screen. EISSN 2409-515X Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
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