Meanwhile, some cases have been only identified through elevated levels of various acidic metabolites in the urine, notably 3-hydroxyisobutyric acid.
2.
When the enzyme acts on valine, ( S )-3-hydroxyisobutyric acid is generated as an intermediate; this then undergoes oxidation by the enzyme 3-hydroxyisobutyrate dehydrogenase to form ( S )-methylmalonic semialdehyde ( MMSA ).
3.
"' 3-Hydroxyisobutyric acid "'( or "'3-hydroxy-2-methylpropanoic acid "') is an intermediate in the metabolism of valine . It is a chiral compound having two enantiomers, D-3-hydroxybutyric acid and L-3-hydroxybutyric acid.
4.
The product of this gene, a mitochondrial methylmalonate semialdehyde dehydrogenase, catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl-and propionyl-CoA . Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids.
5.
In the author's own words, " The first phase in the reaction is probably the formation of acetonechloroform-- ( which may, indeed, be used in place of the chloroform ), this being then acted on by sodium hydroxide in presence of acetone, yielding ?-hydroxyisobutyric acid, which, with the phenol, gives ?-phenoxyisobutyric acid.
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