Malonic aciduria or malonyl-CoA decarboxylase deficiency (MCD) is an autosomal-recessive metabolic disorder caused by a genetic mutation that disrupts...
15 KB (1,717 words) - 19:44, 16 May 2024
Combined malonic and methylmalonic aciduria (CMAMMA), also called combined malonic and methylmalonic acidemia is an inherited metabolic disease characterized...
32 KB (3,270 words) - 20:10, 3 September 2024
Methylmalonic acidemias (redirect from Methylmalonic aciduria)
can then also be used to determine whether it is CMAMMA (MA<MMA) or malonic aciduria (MA>MMA). The test is used for further differential diagnosis and to...
49 KB (4,433 words) - 18:08, 16 June 2024
indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid to methylmalonic acid ratio in blood...
20 KB (1,985 words) - 02:27, 6 September 2024
elevated malonic acid levels, this may indicate the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA). By calculating the malonic acid...
13 KB (1,215 words) - 14:50, 12 October 2024
the cell. In peroxisomes, the accumulation of this substance causes malonic aciduria, a highly pathogenic disease. To avoid it malonyl-CoA decarboxylase...
15 KB (1,922 words) - 14:51, 26 August 2023
common to these patients. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, there is an altered composition...
32 KB (3,791 words) - 18:56, 19 August 2024
mitochondrial clearance of toxic malonic acid in the metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). In CMAMMA due to ACSF3,...
6 KB (574 words) - 09:54, 7 March 2024
acid as a sulfur source. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid...
48 KB (4,965 words) - 05:53, 29 September 2024
Malignant paroxysmal ventricular tachycardia Mallory–Weiss syndrome Malonic aciduria Malonyl-CoA decarboxylase deficiency Malouf syndrome Malpuech facial...
28 KB (2,469 words) - 04:35, 13 June 2024
lead to the following metabolic diseases: ACSF3: Combined malonic and methylmalonic aciduria (CMAMMA) MCAT: Medium-chain acyl-CoA dehydrogenase deficiency...
41 KB (4,751 words) - 20:26, 4 September 2024
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Methylmalonic acidemia Propionic acidemia Effects...
16 KB (1,370 words) - 16:50, 15 October 2024
methylmalonyl-CoA mutase. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA), acyl-CoA synthetase family member 3 (ACSF3) is reduced...
8 KB (603 words) - 20:34, 15 September 2024
acid metabolism (organic acidurias) alkaptonuria Combined malonic and methylmalonic aciduria (CMAMMA) 2-hydroxyglutaric acidurias Disorders of fatty acid...
15 KB (1,516 words) - 18:33, 30 September 2024
shown to cause combined malonic and methylmalonic aciduria (CMAMMA). CMAMMA is a condition characterized by high levels of malonic acid and methylmalonic...
5 KB (599 words) - 15:20, 8 July 2024
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia...
15 KB (1,403 words) - 14:57, 10 June 2024
3-Methylcrotonyl-CoA carboxylase deficiency (redirect from 3 methylcrotonic aciduria)
deficiency, mitochondrial acetoacetyl-CoA thiolase deficiency and malonic aciduria. 3-Methylcrotonyl-CoA carboxylase deficiency is differentiated by the...
27 KB (2,390 words) - 08:08, 20 August 2024
"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...
42 KB (983 words) - 18:14, 6 October 2024
the intermembrane space. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3, a massive altered composition of complex...
29 KB (3,310 words) - 03:20, 2 February 2024
of intermittent hypoglycemia, as for example in combined malonic and methylmalonic aciduria (CMAMMA), propionic acidemia or isolated methylmalonic acidemia...
65 KB (6,264 words) - 23:47, 7 October 2024
acid metabolism Methylmalonic acidemia (Cbl C,D) Malonic acidemia 2-Methyl 3-hydroxy butyric aciduria Isobutyryl-CoA dehydrogenase deficiency 2-Methylbutyryl-CoA...
7 KB (716 words) - 06:19, 9 June 2024
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Maple syrup urine disease (MSUD) Methylmalonic acidemia...
14 KB (1,152 words) - 11:04, 19 February 2024
heterogeneous clinical phenotypes of the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency are thought to result from...
27 KB (2,990 words) - 21:27, 4 July 2024
levels may also be due to the rare metabolic disorder combined malonic and methylmalonic aciduria (CMAMMA). Folate deficiency is treated with supplemental oral...
106 KB (11,287 words) - 00:15, 5 October 2024
is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA) Homocystinuria Methylmalonic acidemia Propionic acidemia...
30 KB (3,054 words) - 06:15, 23 June 2024
remains relatively unknown. In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA) due to ACSF3 deficiency, mitochondrial fatty acid...
17 KB (1,893 words) - 16:48, 27 June 2024
Clove Coenzyme Q cytochrome c reductase deficiency Combined malonic and methylmalonic aciduria (CMAMMA) Deficiency in enzymes of fat oxidation Delayed separation...
21 KB (1,265 words) - 01:46, 22 December 2023
polycystic kidney disease (PKD-1) Batten disease Combined malonic and methylmalonic aciduria (CMAMMA) Familial Mediterranean fever (FMF) Synesthesia Thalassemia...
24 KB (1,670 words) - 21:40, 18 September 2024
may play a role in treating individuals with MSUD. Combined malonic and methylmalonic aciduria (CMAMMA) Isovaleric acidemia Methylmalonic acidemia Propionic...
45 KB (5,486 words) - 01:50, 9 September 2024
further accompanied by elevated malonic acid levels, this may be indicative of combined malonic and methylmalonic aciduria (CMAMMA). If nervous system damage...
119 KB (13,121 words) - 14:33, 4 October 2024