Segmental uniparental disomy of chromosome 4 in a patient with methylmalonic acidemia.

ABSTRACT:

Background

Methylmalonic acidemia (MMA) is an autosomal recessive genetic disorder involving the metabolism of organic acids.

Methods

Here, we report the case of a patient who developed acute metabolic crisis after vaccination and was diagnosed with cblA type MMA after hospitalization.

Results

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 microarray analysis, maternal uniparental disomy (UPD) was found on chromosome 4q26-q35.2 of the patient. The MMAA gene of the patient was inherited only from the mother and carried the same pathogenic variant on both alleles of chromosome 4. MMAA gene expression levels in whole blood were detected by

SUBMITTER: Chen M 

PROVIDER: S-EPMC6978399 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature