A case of malonyl coenzyme A decarboxylase deficiency with novel mutations and literature review.

ABSTRACT:

Introduction

Malonyl coenzyme A decarboxylase deficiency is caused by an abnormality in the MLYCD gene. The clinical manifestations of the disease involve multisystem and multiorgan.

Methods

We collected and analyzed a patient's clinical characteristics, genetic chain of evidence and RNA-seq. We use the search term "Malonyl-CoA Decarboxylase Deficiency" on Pubmed to collect cases reported.

Results

We report a 3-year-old girl who is presented with developmental retardation, myocardial damage and elevated C3DC. High-throughput sequencing identified heterozygous mutation (c.798G>A, p.Q266?) in the patient inherited from her father. The other heterozygous mutation (c.641+5G>C) was found in the patient inherited from her mother. RNA-seq showed that there were 254 different

SUBMITTER: Zhao C 

PROVIDER: S-EPMC10152364 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature