Mehran Beiraghi Toosi
Department of Pediatric Neurology, Ghaem Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
[ 1 ] - 4-Hydroxybutyric Aciduria as a Rare Presentation of Global Developmental Delay in Children: Case Report of Two Different Patients
Succinic semialdehyde dehydrogenase (SSADH) deficiency or 4-Hydroxybutyric Aciduria is an autosomal recessive inherited disorder of amma-aminobutyric acid (GABA) degradation. It is characterized by developmental delay, infantile-onset hypotonia, cognitive impairment language deficit, and ataxia. Epilepsy, aggression, Hyperkinetic behavior, hallucinations, and sleep disturbances have been descri...
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