MLYCD

Malonyl-CoA decarboxylase (MLYCD) deficiency is an autosomal recessive disorder characterized by malonic aciduria, developmental delay, seizure disorder, hypoglycemia, and cardiomyopathy. Genomic sequencing of MLYCD in nine unrelated patients identified 16 of 18 pathogenic alleles, which are documented in the newly created Human MLYCD Allelic Variant Database.丙二酰辅酶A脱羧酶（Malonyl-CoA decarboxylase，MLYCD）缺乏症是一种常染色体隐性遗传病，以丙二酸尿症、发育迟缓、癫痫发作障碍、低血糖症及心肌病为特征。对9名无关患者的MLYCD基因开展基因组测序，共检出18个致病性等位基因中的16个，上述变异已被收录于新建的人类MLYCD等位基因变异数据库。

搜集汇总

背景与挑战

背景概述

MLYCD数据集聚焦于丙二酰辅酶A脱羧酶缺陷，这是一种以丙二酸尿症、发育迟缓、癫痫、低血糖和心肌病为特征的常染色体隐性遗传病。该数据集记录了通过基因组测序在患者中发现的致病性等位基因，并关联于人类MLYCD等位基因变异数据库。