first case report of short-chain acyl-coa dehydrogenase deficiency in china

POSTER PRESENTATION Open Access First case report of short-chain acyl-CoA dehydrogenase deficiency in China MinYan Jiang, Li Liu * , MinZhi Peng, CuiLi Liang, HuiYing Sheng, YanNa Cai From 7th APPES Biennial Scientific Meeting Nusa Dua, Bali. 14-17 November 2012 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 acyl- carnitines on MS/MS, elevations of C4-cartinitine are con- sistently 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. Published: 3 October 2013 doi:10.1186/1687-9856-2013-S1-P181 Cite this article as: Jiang et al.: First case report of short-chain acyl-CoA dehydrogenase deficiency in China. International Journal of Pediatric Endocrinology 2013 2013(Suppl 1):P181. Submit your next manuscript to BioMed Central and take full advantage of: • Convenient online submission • Thorough peer review • No space constraints or color ﬁgure charges • Immediate publication on acceptance • Inclusion in PubMed, CAS, Scopus and Google Scholar • Research which is freely available for redistribution Submit your manuscript at www.biomedcentral.com/submit Department of Endocrinology and Metabolisms, Guangzhou Women and Children’s Medical Center, Guangzhou, Guangdong, China Jiang et al. International Journal of Pediatric Endocrinology 2013, 2013(Suppl 1):P181 http://www.ijpeonline.com/content/2013/S1/P181 © 2013 Jiang et al; licensee 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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Page 1: First case report of short-chain acyl-CoA dehydrogenase deficiency in China

POSTER PRESENTATION Open Access

First case report of short-chain acyl-CoAdehydrogenase deficiency in ChinaMinYan Jiang, Li Liu*, MinZhi Peng, CuiLi Liang, HuiYing Sheng, YanNa Cai

From 7th APPES Biennial Scientific MeetingNusa Dua, Bali. 14-17 November 2012

Short-chain acyl-CoA dehydrogenase deficiency (SCADD)is a rare autosomal recessive inborn error of mitochondrialfatty acid oxidation. It caused by rare mutations as well aspolymorphic susceptibility variants. We describe the caseof a 1-year-old male patient who had growth and mentalretardation, seizures, fever since infancy. Urinary GC/MSshowed elevated levels of ethylmalonic acid. Plasma acyl-carnitines on MS/MS, elevations of C4-cartinitine are con-sistently present. The two polymorphic susceptibilityvariants of SCAD gene, c.625G>A and c.322G>A, wasdetected. As its highly variable clinical characteristics,there is no related report in China. This report broadensthe phenotype and genotype of SCAD deficiency in Chinaand underlines the difficulty of diagnosis.

Published: 3 October 2013

doi:10.1186/1687-9856-2013-S1-P181Cite this article as: Jiang et al.: First case report of short-chain acyl-CoAdehydrogenase deficiency in China. International Journal of PediatricEndocrinology 2013 2013(Suppl 1):P181.

Submit your next manuscript to BioMed Centraland take full advantage of:

• Convenient online submission

• Thorough peer review

• No space constraints or color figure charges

• Immediate publication on acceptance

• Inclusion in PubMed, CAS, Scopus and Google Scholar

• Research which is freely available for redistribution

Submit your manuscript at www.biomedcentral.com/submitDepartment of Endocrinology and Metabolisms, Guangzhou Women and

Children’s Medical Center, Guangzhou, Guangdong, China

Jiang et al. International Journal of Pediatric Endocrinology 2013, 2013(Suppl 1):P181http://www.ijpeonline.com/content/2013/S1/P181

© 2013 Jiang et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative CommonsAttribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction inany medium, provided the original work is properly cited.

http://creativecommons.org/licenses/by/2.0

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