Seizure are frequent symptoms of inborn errors of metabolism. In particular, 26–60% of all mitochondrial disorders occur with epilepsy, and 169 genetic mutations affected mitochondrial function have been associated to seizures. Dr. Zsurka and Dr. S Kunz from Bonn University, Germany, proposed an accurate review, recently published in the journal Lancet Neurology, of the relationship […]
Author Archives: Linda Cassis
12 posts published by Linda Cassis
A step towards the description of the natural history of succinic semialdehyde dehydrogenase (SSADH) deficiency
The natural history of a disease is defined as its progression over time, in the absence of treatment. Thus, for inherited inborn errors of metabolism, which are normally identified and treated in childhood, it is often unknown. A group of physicians from Canada recently described in the journal Neurology some features of the natural history in adulthood of succinic semialdehyde dehydrogenase (SSADH) deficiency, an autosomal recessive disorder characterized by the lack of the enzyme involved in the degradation of the neurotransmitter GABA, which in turn leads to an accumulation of gamma-hydroxybutyric acid.
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