Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The symptoms appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia) etc. In order to find out the cause of disease, doctors recommend to run a genetic testing for the infant. The results showed that the infant carried two heterozygous mutations of MMACHC gene: C. 609G > A and C. 394C > T, which was inherited from their parents. Both Parents were also identified with the pathogenic loci, which could constitute a compound heterozygous pathogenic pattern.
Soon the couple has figured it out that the risk is too high of having another child, so on doctor’s recommendation they decide to choose PGT-M technology to have a normal child. One healthy embryo was obtained, and the woman finally conceived a lovely baby girl.