Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency
β Scribed by K. M. Gibson; C. Jakobs; H. Ogier; L. Hagenfeldt; K. Edebol Eeg-Olofsson; O. Eeg-Olofsson; F. Aksu; H. -P. Weber; E. Rossier; B. Vollmer; W. Lehnert
- Publisher
- Springer
- Year
- 1995
- Tongue
- English
- Weight
- 220 KB
- Volume
- 18
- Category
- Article
- ISSN
- 0141-8955
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## Abstract We report the successful treatment using lowβdose vigabatrin (21.5β34mg/kg/day) of a 10βyearβold girl with succinic semialdehyde dehydrogenase (SSADH) deficiency We verified that 4βhydroxybutyric acid (GHB) concentrations in serum, cerebrospinal fluid, and urine continuously decreased i
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