In the process, it produces keto acids
, which are released through urine and the breath.
Pathogenic variants in both alleles encoding any subunit can result in decreased activity of the enzyme complex and the accumulation of BCAAs and their corresponding branched-chain keto acids
in tissues and plasma.
In brief, branched-chain keto acids
were derivatized with o-phenylene-diamine to give fluorescent derivates, which were separated chromatographically on a Reverse-Phase Column (Spherisorb ODS-2, 4.6x250 mm column filled with 5 mm particles, Waters, Eschborn, Germany) using a binary gradient (L-7100, Merck-Hitachi, Japan).
Branched chain amino acid compounds and their corresponding alpha keto acids
and the enzymatic defect in MSUD was demonstrated by Dancis et al.
The quantitation of a- keto acids
by fluorescence HPLC has been reviewed .
Rexim's 17,000m2 Ham site mainly produces high quality pharmaceutical grades of amino acids, their salts and derivatives, as well as peptides and keto acids
Accumulation of these 3 amino acids and their corresponding keto acids
leads to encephalopathy and progressive neurodegeneration in untreated infants.
Increased amounts of keto acids
, including phenylpyruvate, were detected during analysis of the urine.
The amination of keto acids
is assumed to be more important then the elimination of ammonia (Fairbairn, 1957).
The [beta]-ketoglutarate (KGOR), aromatic aryl acids (IOR), the keto acids
derived from the branched chain amino acids (VOR), and pyruvate (POR) are oxidized to the corresponding aryl- or acyl-CoA compounds, with concomitant release of C[O.sub.2].
The reagent blank was prepared following the same procedure, without the addition of a- keto acids