Acidurie 4 hydroxy-butyric
The hydroxy-butyric acidurie 4 appears by a psychomotor delay, a Hypotonie appearing in childhood and a Ataxie. Convulsives crises meet at 50% of the individuals reached. A hyperactivity, self-mutilations, an aggressive behavior, hallucinations and sleep disorders are usual among oldest patients. The attack of the gray Cores with Chorée - athétose, dystonie and myoclonie occur in the most severe cases.
The diagnosis is done by proportioning the 4-hydroxybutyrique one in the urines.
Sources
- Phillip L Pearl, Thomas R Hartka, Jessica L Cabalza, K Michael Gibson, Succinic Semialdehyde Dehydrogenase Deficiency In: GeneReviews At GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1997-2006.
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