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Malonic aciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive[1] metabolic disorder caused by a genetic mutation that disrupts the activity of Malonyl-CoA decarboxylase. This enzyme breaks down Malonyl-CoA (a fatty acid precursor and a fatty acid oxidation blocker) into acetyl-CoA and carbon dioxide.
^MacPhee, G. B.; Logan, R. W.; Mitchell, J. S.; Howells, D. W.; Tsotsis, E.; Thorburn, D. R. (October 1993). "Malonyl coenzyme a decarboxylase deficiency". Archives of Disease in Childhood. 69 (4): 433–436. doi:10.1136/adc.69.4.433. PMC 1029550. PMID 8259873.
Malonicaciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts...
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized...
can then also be used to determine whether it is CMAMMA (MA<MMA) or malonicaciduria (MA>MMA). The test is used for further differential diagnosis and to...
indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid to methylmalonic acid ratio in blood...
elevated malonic acid levels, this may indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid...
lead to the following metabolic diseases: ACSF3: Combined malonic and methylmalonic aciduria (CMAMMA) MCAT: Medium-chain acyl-CoA dehydrogenase deficiency...
acid as a sulfur source. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid...
common to these patients. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, there is an altered composition...
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia...
of intermittent hypoglycemia, as for example in combined malonic and methylmalonic aciduria (CMAMMA), propionic acidemia or isolated methylmalonic acidemia...
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Methylmalonic acidemia Propionic acidemia Effects...
the intermembrane space. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3, a massive altered composition of complex...
shown to cause combined malonic and methylmalonic aciduria (CMAMMA). CMAMMA is a condition characterized by high levels of malonic acid and methylmalonic...
"Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria". Nature Genetics. 43 (9): 883–886. doi:10.1038/ng.908. ISSN 1061-4036...
patients and may be a possible adjunctive treatment. Combined malonic and methylmalonic aciduria (CMAMMA) Isovaleric acidemia Methylmalonic acidemia Propionic...
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia...
remains relatively unknown. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid...
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia...
levels may also be due to the rare metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). Folate deficiency is treated with supplemental oral...
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