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

ABSTRACT:

Objective

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, and the mutation spectrum of this disorder in a large cohort of Chinese patients.

Methods

A total of 24 patients were enrolled, and blood acylcarnitine and urinary organic acid levels were measured by tandem mass spectrometry and gas chromatography-mass spectrometry (GC-MS), respectively. Mutations in the ACADM gene were detected by Sanger or next-generation sequencing. Clinical progression, acylcarnitine spectra, and mutations were analyzed and described in detail.

Results

Among the 24 patients, six cases were diagnosed because of disease onset with sympto

SUBMITTER: Gong Z 

PROVIDER: S-EPMC8025081 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature