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As both malonic acid and methylmalonic acid levels are elevated in malonic aciduria, it used to be referred to as combined malonic and methylmalonic aciduria (CMAMMA). Although ACSF3 deficiency was not discovered until later, the term combined malonic and methylmalonic aciduria has now become established in medical databases for ACSF3 deficiency.
Methylmalonic acidemia has an autosomal recessive pattern of inheritance.. Methylmalonic acidemias have an autosomal recessive inheritance pattern, which means the defective gene is located on an autosome, and two copies of the gene—one from each parent—must be inherited to be affected by the disorder.
However, methylmalonic acid levels exceed those of malonic acid (MMA/MA >5). [8] [23] By calculating the methylmalonic acid/malonic acid ratio in blood plasma, CMAMMA can be clearly distinguished from a classic methylmalonic acidemia. [1] This is true for both, vitamin B 12 responders and non-responders forms of methylmalonic acidemia. [1]
In the metabolic disease combined malonic and methylmalonic aciduria (CMAMMA), acyl-CoA synthetase family member 3 (ACSF3) is reduced, which converts toxic methylmalonic acid to methylmalonyl-CoA and thus supplies it to the citric acid cycle. [7] [8] The result is an accumulation of methylmalonic acid.
Methylmalonic acid is elevated in 90–98% of patients with vitamin B 12 deficiency. It has lower specificity since 20–25% of patients over the age of 70 have elevated levels of methylmalonic acid, but 25–33% of them do not have B 12 deficiency. For this reason, the testing of methylmalonic acid levels is not routinely recommended in the ...
Malonic acid is used to prepare a,b-unsaturated carboxylic acids by condensation and decarboxylation. Cinnamic acids are prepared in this way: CH 2 (CO 2 H) 2 + ArCHO → ArCH=CHCO 2 H + H 2 O + CO 2. In this, the so-called Knoevenagel condensation, malonic acid condenses with the carbonyl group of an aldehyde or ketone, followed by a ...
A notable method for synthesizing acetamidomalon ester is described in a 1950 patent, [1] which cites a procedure previously featured in Organic Syntheses. [2] The synthesis procedure involves the preparation of malonic acid diethyl ester in acetic acid combined with sodium nitrite (NaNO 2), resulting in diethyl isonitrosomalonate (also known as α-oximinomalonic acid diethyl ester).
Diethyl malonate, also known as DEM, is the diethyl ester of malonic acid. It occurs naturally in grapes and strawberries as a colourless liquid with an apple-like odour, and is used in perfumes. It is also used to synthesize other compounds such as barbiturates, artificial flavourings, vitamin B 1, and vitamin B 6.