Ontology highlight
ABSTRACT:
SUBMITTER: Chen M
PROVIDER: S-EPMC6978399 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Chen Min M Hao Hu H Xiong Hui H Cai Yao Y Ma Fei F Shi Congcong C Xiao Xin X Li Sitao S
Molecular genetics & genomic medicine 20191202 1
<h4>Background</h4>Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the metabolism of organic acids.<h4>Methods</h4>Here, we report the case of a patient who developed acute metabolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization.<h4>Results</h4>Further examination revealed a homozygous pathogenic variant in the MMAA gene that caused the disease in the patient but did not conform to Mendelian inheritance. Using chromosomal mi ...[more]