|| common in complete genomics
|| Excess GHB in blood
|?|| (C;C) (C;T) (T;T) ||28|
Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency.[PMID 14635103
] Reduced SSADH activity with T variant (48% of normal).
[PMID 15514892] A 77-kilobase region of chromosome 6p22.2 is associated with dyslexia in families from the United Kingdom and from the United States.
[PMID 19164088] Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency.
|| not reviewed
|| Insufficiently evaluated not reviewed