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Published on: September 27, 2019
First case report of short-chain acyl-CoA dehydrogenase deficiency in China
MinYan Jiang1, Li Liu, MinZhi Peng
1Department of Endocrinology and Metabolisms, Guangzhou Women and Children's Medical Center, Guangzhou, Guangdong, China.
Insights
Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is a rare metabolic disorder. This case highlights SCADD
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Short-chain acyl-CoA dehydrogenase deficiency (SCADD) is an autosomal recessive disorder affecting mitochondrial fatty acid oxidation.
- It results from mutations or polymorphic variants in the SCAD gene.
Observation:
- A 1-year-old male presented with growth and mental retardation, seizures, and recurrent fevers.
- Diagnostic tests revealed elevated urinary ethylmalonic acid and plasma C4-carnitine levels.
Findings:
- Genetic analysis identified the SCAD gene variants c.625G>A and c.322G>A.
- This case expands the known phenotype and genotype spectrum of SCADD.
Implications:
- The diagnosis of SCADD can be challenging due to its variable clinical presentation.
- This report contributes to understanding SCADD in the Chinese population and emphasizes diagnostic difficulties.
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.
