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Methylmalonic Acid Test - Crossref

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Last Updated: 20 April 2022

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Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations

In the second pregnancy, an invasive prenatal diagnosis of the pathogenic MMACHC gene was used to determine fetal genotypes, and NIPT was carried out using a novel MMACHC gene-specific cSMART assay. Maternal–fetal genotypes were determined based on the mutation ratio in maternal plasma DNA. The concordance ratio for NIPT and IPD was 100. 00%, with sensitivity and specificity matched at 100. 00% and 100. 00% respectively, after deleting two cases with a poor P value or reads. This research shows that NIPT using the cSMART assay for cblC type MMA was accurate in detecting fetal genotypes.

Source link: https://doi.org/10.3389/fgene.2021.750719


Genetic testing is necessary for correct diagnosis and treatment in patients with isolated methylmalonic aciduria: a case report

Background of Isolated methylmalonic aciduria Pathogenic mutations in the gene for methylmalonyl-CoA mutase or in the genes encoding enzymes involved in cobalamin's intracellular metabolism can be attributed to pathogenic mutations in the co-introducing enzymes. The amount of methylmalonic aciduria can't always be determined from clinical appearance and cobalamin's responsiveness to cobalamin should be tested for appropriate cobalamin administration or avoid unnecessary therapy. Case study We introduce two patients who came in the first week of life with rapid physical decline caused by metabolic acidosis and severe hyperammonaemia, requiring extracorporeal elimination in lieu of protein restriction, energy delivery, carnitine, and vitamin B12 therapy. Patients with hyperhomocysteinaemia and elevated methylmalonic acid concentrations in the urine without hyperhomocysteinaemia in both of our patients and immunoglobulin A1 toxicity in both of our patients indicated isolated methylmalonic aciduria. Patient 1's acute crisis did not require hospitalization, but the urine methylmalonic acid levels were still reduced, and patient 2's urine methylmalonic acid levels had declined.

Source link: https://doi.org/10.1186/s12887-021-03067-3

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions