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Methylmalonicacidsemialdehyde is an intermediate in the metabolism of thymine and valine. Methylmalonate-semialdehyde dehydrogenase (acylating) Voet...
buildup of a toxic level of methylmalonicacid in body liquids and tissues. Due to the disturbed branched-chain amino acids (BCAA) metabolism, they are...
decreased methylmalonicacid, increased folate and a decrease in homocysteine. Formiminotransferase cyclodeaminase Glutamate-1-semialdehyde Glutamic acid...
In organic chemistry, a semialdehyde is a compound containing an aldehyde and a carboxylic acid functional groups. Semialdehydes are common in biochemistry...
and microorganisms, threonine is synthesized from aspartic acid via α-aspartyl-semialdehyde and homoserine. Homoserine undergoes O-phosphorylation; this...
Carboxylic acids are organic acids characterized by a carboxyl (-COOH) functional group. The naming of these compounds is governed by IUPAC nomenclature...
aspartic acid, while the sulfur may come from cysteine, methanethiol, or hydrogen sulfide. First, aspartic acid is converted via β-aspartyl semialdehyde into...
ketogenic) or fatty acids. The degradation of isoleucine is impaired in the following metabolic diseases: Combined malonic and methylmalonic aciduria (CMAMMA)...
where it is accompanied by decreased methylmalonicacid, increased folate, and a decrease in formiminoglutamic acid. This is the opposite of MTHFR C677T...
list, see the link in the infobox on the right. AASDH: aminoadipate-semialdehyde dehydrogenase ACVR1: activin-like kinase 2 (ALK-2) ACOX3: encoding enzyme...
delayed by an earlier diagnosis of an initially unclassified form of methylmalonic aciduria at the age of 2. At that time the hypotonia and delayed development...