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Pathway Description
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency
Homo sapiens
Disease Pathway
Created: 2022-12-14
Last Updated: 2023-10-25
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency (SSADH; Gamma-hydroxybutyric acidemia) inhibits the formation of succinate from GABA. This deficiency results in urinary excretion of 4-hydroxybutyric acid. In vivo proton MR also indicates elevated GABA levels as compared with an age-matched control. Symptoms include ataxia, chorea or athetosis, motor retardation, seizures, macrocephaly and delayed or abnormal speech development.
References
4-Hydroxybutyric Aciduria/Succinic Semialdehyde Dehydrogenase Deficiency References
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