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First case report of short-chain acyl-CoA dehydrogenase deficiency in China

Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare autosomal recessive inborn error of mitochondrial fatty acid oxidation. It caused by rare mutations as well as polymorphic susceptibility variants. We describe the case of a 1-year-old male patient who had growth and mental retardation, seizures, fever since infancy. Urinary GC/MS showed elevated levels of ethylmalonic acid. Plasma acylcarnitines on MS/MS, elevations of C4-cartinitine are consistently present. The two polymorphic susceptibility variants of SCAD gene, c.625G>A and c.322G>A, was detected. As its highly variable clinical characteristics, there is no related report in China. This report broadens the phenotype and genotype of SCAD deficiency in China and underlines the difficulty of diagnosis.

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Open Access This article is published under license to BioMed Central Ltd. This is an Open Access article is distributed under the terms of the Creative Commons Attribution License ( https://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver ( https://creativecommons.org/publicdomain/zero/1.0/ ) applies to the data made available in this article, unless otherwise stated.

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Jiang, M., Liu, L., Peng, M. et al. First case report of short-chain acyl-CoA dehydrogenase deficiency in China. Int J Pediatr Endocrinol 2013 (Suppl 1), P181 (2013). https://doi.org/10.1186/1687-9856-2013-S1-P181

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  • DOI: https://doi.org/10.1186/1687-9856-2013-S1-P181

Keywords

  • Elevated Level
  • Male Patient
  • Child Health
  • Mental Retardation
  • Acid Oxidation