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

Abstract

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

• Authors: MinYan Jiang, Li Liu, MinZhi Peng, CuiLi Liang, HuiYing Sheng, YanNa Cai
• Journal: Journal of pediatric endocrinology & metabolism : JPEM (J Pediatr Endocrinol Metab) Vol. 25 Issue 7-8 Pg. 795-7 ( 2012) ISSN: 0334-018X [Print] Germany
• PMID: 23155713 (Publication Type: Case Reports, Journal Article)

Chemical References

• Butyryl-CoA Dehydrogenase
• Acyl-CoA Dehydrogenase

Topics

• Acyl-CoA Dehydrogenase (deficiency, genetics)
• Butyryl-CoA Dehydrogenase (genetics)
• China
• Genotype
• Humans
• Infant
• Intellectual Disability (complications, diagnosis, genetics)
• Lipid Metabolism, Inborn Errors (complications, diagnosis, genetics)
• Male
• Polymorphism, Single Nucleotide (physiology)
• Seizures (complications, congenital, diagnosis, genetics)