Article
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency.
Brain & development - 1 Oct 2024
Zhang J M, Hao L L, Qiu W J, Zhang H W, Chen T, Ji W J, Zhang Y, Liu F, Gu X F, Yang S H, Han L S
Abstract excerpt
BACKGROUND: Malonyl-CoA decarboxylase (MLYCD) deficiency, also known as malonic aciduria (MAD), is a rare autosomal recessive inherited metabolic defect. In this study, we aimed to investigate the clinical and molecular features of five patients with MAD in order to increase clinicians' awareness of the disease. METHODS: Sanger sequencing was used to detect and genetically analyze the MLYCD variations in the...
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