Volume 2013 Supplement 1

7th Asia Pacific Paediatric Endocrine Society (APPES) Biennial Scientific Meeting

Open Access

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

  • MinYan Jiang1,
  • Li Liu1,
  • MinZhi Peng1,
  • CuiLi Liang1,
  • HuiYing Sheng1 and
  • YanNa Cai1
International Journal of Pediatric Endocrinology20132013(Suppl 1):P181

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

Published: 3 October 2013

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.

Authors’ Affiliations

(1)
Department of Endocrinology and Metabolisms, Guangzhou Women and Children’s Medical Center

Copyright

© Jiang et al; licensee BioMed Central Ltd. 2013

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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