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Methylmalonic Acidemia
Published in Charles Theisler, Adjuvant Medical Care, 2023
Methylmalonic acidemia is an inherited disorder in which the body is unable to properly process certain proteins and lipids. The result is a buildup of a substance called methylmalonic acid in the blood.1 The effects of methylmalonic acidemia usually appear in early infancy. Affected infants may experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), seizures, and/or failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis).1 Without treatment, this disorder can lead to coma and death.
Nutritional Deficiencies
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Deepa Bhupali, Fernando D. Testai
The accumulation of methylmalonic acid and its precursor, propionic acid, may provide abnormal substrates for fatty acid synthesis, resulting in abnormal odd-number carbon and branched-chain fatty acids, which are incorporated into the myelin sheath. In addition, the accumulation of homocysteine is associated with accelerated atherosclerotic disease.
Haematological problems
Published in Catherine Nelson-Piercy, Handbook of Obstetric Medicine, 2020
Diagnosis is made by the following findings: Reduced holotranscobalamin levelsIncreased methylmalonic acid levelsReduced B12 levels
Should we follow the guidelines on vitamin B12 deficiency and diabetes? A retrospective analysis of data from middle eastern population
Published in Alexandria Journal of Medicine, 2023
Ahmed Kamal Swidan, Marwa Ahmed Salah Ahmed
The study limitations include a number of them. Because it was conducted on a group at a specific center, the results may differ and there may be significant variation from average diabetes patients prevalent in the community. This raised the first question about external validity. Second, this study did not assess the blood levels of methylmalonic acid, which could have improved sensitivity by identifying the vitamin B12 insufficiency at its first, non-symptomatic stage. However, this was an observational study and methymalonic acid is not routinely done or recommended. We could not determine exactly the duration and the dose of metformin, so we excluded that from the data, since metformin use had no significant correlation with vitamin B12 deficiency, the dose and duration might not affect our results.
Clinical application of NGS-based SNP haplotyping for PGT-M of methylmalonic acidemia
Published in Systems Biology in Reproductive Medicine, 2022
Bin He, Lin Wang, Qiuhua Wu, Xiaobin Wang, Xingzhe Ji, Wenhao Shi, Juanzi Shi, Rong Qiang, Shuai Zhen
Methylmalonic acidemia (MMA) is a group of autosomal recessive disorders mainly divided into isolated MMA and combined MMA with homocysteinemia (Almási et al. 2019). The methylmalonyl-CoA mutase (MMUT) type MMA is one of the isolated forms caused by a complete or partial deficiency of MMUT due to mutations in the MMUT (NM_000255.4) gene (Ji et al. 2019a). MMUT deficiency causes elevated levels of methylmalonyl-CoA and methylmalonic acid in body fluids and tissues. Delayed diagnosis and treatment results in the accumulation of methylmalonic acid, which damages the central nervous system and causes deep coma, metabolic crisis and death during the newborn period (Tanacan et al. 2019; Han et al. 2020). Patients with MMA, although treated in accordance with guidelines, including dietary protein restriction, carnitine supplementation and the use of drugs to modulate ammonia, may still experience acute metabolic crisis or even have to undergo surgery (Baumgartner et al. 2014; Fraser and Venditti 2016). Furthermore, these treatments can neither block the vertical heredity of pathogenic mutations nor guarantee quality of life.
Vitamin B12 deficiency in type 2 diabetic patients on metformin: a cross-sectional study from South-Western part of Ghana
Published in Alexandria Journal of Medicine, 2019
Maryam Yakubu, Edwin Ferguson Laing, Paul Nsiah, Richard Anthony, Emmanuel Acheampong, Samuel Kojo Asamoah, Enoch Odame Anto, Gabriel Djokoto, Evans Adu Asamoah, Eddie-Williams Owiredu
The estimation of serum methylmalonic acid was based on the competitive binding enzyme immunoassay technique (standardized with an intra-assay %CVs <6.1% and inter-assay %CVs <10.2%) (MyBioSource, Inc. San Diego, CA, USA) according to the manufacturer’s instructions. Briefly, 50 μL of standards, controls, and samples were pipetted into appropriate microtitre wells which were pre-coated with an antibody specific to MMA. Fifty microliters (50 μL) of Detection A working solution was added to each well, mixed thoroughly, covered with an adhesive strip, and incubated at 37°C for 60 min. The incubation mixture was aspirated from the wells followed by five washes with the wash solution (400 μL). Residual water droplets were removed by striking the wells onto absorbent paper. A 100 μL of Detection A working solution was pipetted into each well, mixed gently and incubated at 37°C for 45 min.