Clinical, Biochemical, and Molecular Analyses of Medium-Chain Acyl-CoA Dehydrogenase Deficiency in Chinese Patients

• DOI: 10.3389/fgene.2021.577046
• Publication Date: 2021-03-24T09:50:03Z
• Authors: Zhuwen Gong; Lili Liang; Wenjuan Qiu; Huiwen Zhang; Jun Ye; Yu Wang; Wenjun Ji; Ting Chen; Xuefan Gu; Lianshu Han
• Keywords: Sanger sequencing; Compound heterozygosity

Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is a rare inherited metabolic disorder of fatty acid β-oxidation. The present study aimed to evaluate clinical and biochemical manifestations, the mutation spectrum this in large cohort Chinese patients.A total 24 patients were enrolled, blood acylcarnitine urinary organic levels measured by tandem mass spectrometry gas chromatography-mass (GC-MS), respectively. Mutations ACADM gene detected Sanger or next-generation sequencing. Clinical progression, spectra, mutations analyzed described detail.Among patients, six cases diagnosed because disease onset with symptoms such as vomiting, diarrhea, convulsion, hypoglycemia; 18 without newborn screening (NBS). All who accepted treatment after diagnosis developed normal intelligence physique. concentrations octanoylcarnitine, octanoylcarnitine/decanoylcarnitine ratio, octanoylcarnitine/acetylcarnitine ratio dicarboxylic consistently elevated. Blood biomarkers failed decrease treatment. DNA sequencing revealed seven known 17 novel patients. Mutation p.T150Rfs∗4 was most frequent, followed p.R31C, p.F103Y, p.I223T, p.G362E, c.387+1delG.Despite abnormalities, medium-chain showed relatively mild phenotypes low mortality optimistic prognoses China. NBS crucial for early diagnosis, treatment, prognosis.