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 b...
Topics
- Acetyl-CoA C-Acyltransferase
- Brain
- Carnitine
- Child, Preschool
- Electroencephalography
- Female
- Fibroblasts
- Gas Chromatography-Mass Spectrometry
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Mass Spectrometry
- Metabolism, Inborn Errors
- Mitochondria
- Nervous System Diseases
- Phenotype