Combined malonic and methylmalonic aciduria information
This article is about CMAMMA due to ACSF3 deficiency. For CMAMMA due to malonyl-CoA decarboxylase deficiency, see malonic aciduria.
Rare metabolic disease
Medical condition
Combined malonic and methylmalonic aciduria
Other names
ACSF3 deficiency, non-classic CMAMMA
Specialty
Medical genetics
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized by elevated levels of malonic acid and methylmalonic acid.[1] However, the methylmalonic acid levels exceed those of malonic acid.[2] CMAMMA is not only an organic aciduria but also a defect of mitochondrial fatty acid synthesis (mtFASII).[3] Some researchers have hypothesized that CMAMMA might be one of the most common forms of methylmalonic acidemia, and possibly one of the most common inborn errors of metabolism.[4] Due to being infrequently diagnosed, it most often goes undetected.[4][5]
^de Sain-van der Velden, Monique G. M.; van der Ham, Maria; Jans, Judith J.; Visser, Gepke; Prinsen, Hubertus C. M. T.; Verhoeven-Duif, Nanda M.; van Gassen, Koen L. I.; van Hasselt, Peter M. (2016), Morava, Eva; Baumgartner, Matthias; Patterson, Marc; Rahman, Shamima (eds.), "A New Approach for Fast Metabolic Diagnostics in CMAMMA", JIMD Reports, Volume 30, vol. 30, Berlin, Heidelberg: Springer Berlin Heidelberg, pp. 15–22, doi:10.1007/8904_2016_531, ISBN 978-3-662-53680-3, PMC 5110436, PMID 26915364
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^Sniderman, Lisa C.; Lambert, Marie; Giguère, Robert; Auray-Blais, Christiane; Lemieux, Bernard; Laframboise, Rachel; Rosenblatt, David S.; Treacy, Eileen P. (1999). "Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program". The Journal of Pediatrics. 134 (6): 675–680. doi:10.1016/S0022-3476(99)70280-5. PMID 10356133.
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Combinedmalonicandmethylmalonicaciduria (CMAMMA), also called combinedmalonicandmethylmalonic acidemia is an inherited metabolic disease characterized...
Methylmalonic acidemias, also called methylmalonicacidurias, are a group of inherited metabolic disorders, that prevent the body from properly breaking...
the malonic acid to methylmalonic acid ratio in blood plasma, malonicaciduria can be clearly distinguished from combinedmalonicandmethylmalonic aciduria...
disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid to methylmalonic acid ratio in blood plasma, CMAMMA can be...
indicate the metabolic disease combinedmalonicandmethylmalonicaciduria (CMAMMA). By calculating the malonic acid to methylmalonic acid ratio in blood plasma...
(2011). "Exome sequencing identifies ACSF3 as a cause of combinedmalonicandmethylmalonicaciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908...
lipoic acid as a sulfur source. In the metabolic disease combinedmalonicandmethylmalonicaciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty...
hypoglycemia, as for example in combinedmalonicandmethylmalonicaciduria (CMAMMA), propionic acidemia or isolated methylmalonic acidemia. A primary B-cell...
levels may also be due to the rare metabolic disorder combinedmalonicandmethylmalonicaciduria (CMAMMA). Folate deficiency is treated with supplemental...
BCAA and their corresponding BCKA in certain groups of MSUD patients and may be a possible adjunctive treatment. Combinedmalonicandmethylmalonic aciduria...
Sara (December 2020). "Brain metabolism and neurological symptoms in combinedmalonicandmethylmalonicaciduria". Orphanet Journal of Rare Diseases. 15...
brain and liver of rats. The degradation of threonine is impaired in the following metabolic diseases: Combinedmalonicandmethylmalonicaciduria (CMAMMA)...
elevated malonic acid levels, this may be indicative of combinedmalonicandmethylmalonicaciduria (CMAMMA). If nervous system damage is present and blood...
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