In the chronic period, increased levels of branched-chain amino acids and disrupted keto acid
homeostasis can lead to disorders in neurotransmitter metabolism, chronic cognitive disorders, and mental retardation by altering amino acid uptake in the brain (2).
Whole exome sequencing revealed a novel homozygous missense variant c.196G>A (p.Gly66Arg) in the branched chain keto acid
dehydrogenase E1 subunit beta (BCKDHB) gene.
The increased activities of ASAT and ALAT (Tables I-II) shown in this study indicate that there may be an active transamination of amino acids possibly to provide keto acid
in the Krebs cycle.
This involves three other ferredoxin-dependent keto acid
Transamination of leucine results in the formation of the branched chain keto acid
, [alpha]-ketoisocaproate ([alpha]-KIC).
One would expect that if 4-HPP was present in the tissues, reduction of a considerable amount of keto acid
to 4-HPL by lactic acid dehydrogenase (11) and/or aromatic [alpha]-keto acid reductase (12,13) would take place.
Although a variety of compounds like alcohol ]3, 4], hydroxy acids [5, 6], acid , aldehyde , ketones [9, 10], benzaldehyde , amino acids [12, 13], keto acid
Depleted tissue stores of TPP and thiamin deficiency are interconnected, and in animal studies thiamin deficiency is correlated with large reductions in the level of mitochondrial, plasma and liver TPP, resulting in a major influence on the activities of the keto acid