Article
3-Ketothiolase deficiency: a review and four new patients with neurologic symptoms.
Brain & development - 1 Nov 1994
Ozand P T, Rashed M, Gascon G G, al Odaib A, Shums A, Nester M, Brismar J
Abstract excerpt
3-Ketothiolase deficiency (3KTD) manifests with intermittent acidosis and is due to deficiency of mitochondrial 2-methylacetoacetate thiolase. Only 22 patients have been previously reported. Although its variable clinical presentation is recognized, the associated neurological findings have not been detailed. We report four new patients all with significant neurological symptoms. Three patients were examined with...
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