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Murine succinate semialdehyde dehydrogenase deficiency

✍ Scribed by Maneesh Gupta; Boris M. Hogema; Markus Grompe; Teodoro G. Bottiglieri; Alessandra Concas; Giovanni Biggio; Cristiana Sogliano; Antonello E. Rigamonti; Phillip L. Pearl; O. Carter Snead III; Cornelis Jakobs; K. Michael Gibson

Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
255 KB
Volume
54
Category
Article
ISSN
0364-5134

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## Abstract We report the successful treatment using low‐dose vigabatrin (21.5–34mg/kg/day) of a 10‐year‐old girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4‐hydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased i

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Succinate semialdehyde dehydrogenase (SSADH; ALDH5A1) deficiency, a rare metabolic disorder that disrupts the normal degradation of GABA, gives rise to a highly heterogeneous neurological phenotype ranging from mild to very severe. The nature of the mutation has so far been reported in patients from