SSADH deficiency is a neurological disease caused by genetic mutations that result in elevated levels of succinic semialdehyde
, which are toxic and ultimately result in severe neurological dysfunction, including motor dysfunction, seizures, speech impairment, intellectual disability, and autistic behavior.
elata, appeared to irreversibly inactivate the succinic semialdehyde
dehydrogenase (SSADH) of bovine brain in in vitro conditions (Table 3, entry 2; Fig.
Emma was diagnosed with the condition Succinic semialdehyde
dehydrogenase deficiency at just eight months old in 2011.
coli, gabT codes for a GABA transaminase that generates succinic semialdehyde
. gabD specifies an NADP-dependent succinic semialdehyde
dehydrogenase, which oxidizes succinic semialdehyde
to succinate .
In the gastrodin-treated group, both succinic semialdehyde
dehydrogenase (SSADH) and succinic semialdehyde
reductase (SSAR) immunoreactivities in the hippocampus was also decreased significantly, which stood in contrast to the nontreated group, in which strong SSADH and SSAR immunoreactivities were detected.
Through the GABA shunt, GABA transaminase enzyme catalyzes the conversion of GABA and 2-oxoglutarate into succinic semialdehyde
and glutamate, respectively.
GABA is converted to succinic semialdehyde
by GABA transaminase.
Jake, who attends Rowan Park special school in Litherland, has suffered with his condition, succinic semialdehyde
dehydrogenase deficiency, since he was a toddler.
The scientists discovered that Synechococcus indeed had genes that coded for one important alternative enzyme, succinic semialdehyde
dehydrogenase, and that adjacent to the gene for this enzyme was a misidentified gene that subsequently was shown to encode a novel enzyme, 2-oxo-glutarate decarboxylase.
Mary Jane's son, Bart (29), has succinic semialdehyde
dehydrogenase deficiency and lives in his own apartment supported by 24-hour caregivers.
That GHB is an endogenous compound has been made even more evident by the recent description of an apparent inborn error of GHB metabolism due to a deficiency in succinic semialdehyde
This method uses the enzymes GABA-glutamic transaminase and succinic semialdehyde
dehydrogenase to generate spectrophotometrically detectable triphosphopyridine nucleotide (reduced) in direct proportion to the amount of GABA in a sample.