Rett syndrome (MECP2) and succinic semialdehyde dehydrogenase (ALDH5A1) deficiency in a developmentally delayed female

ConclusionThe major inhibitory neurotransmitter, γ‐aminobutyric acid (GABA), is increased in SSADHD but normal in RTT, although there are likely regional changes in GABA receptor distribution. GABAergic anomalies occur in both disorders, each featuring an autism spectrum phenotype. What effect the SSADHD biochemical anomalies (elevated GABA, GH B) might play in the neurodevelopmental/epileptic phenotype of our patient is currently unknown.

Source: Molecular Genetics & Genomic Medicine - March 3, 2019 Category: Genetics & Stem Cells Authors: Madalyn Brown, Paula Ashcraft, Erland Arning, Teodoro Bottiglieri, William McClintock, Frank Giancola, David Lieberman, Natalie S. Hauser, Rebecca Miller, Jean ‐Baptiste Roullet, Phillip Pearl, K. Michael Gibson Tags: ORIGINAL ARTICLE Source Type: research