Erschienen in:
25.01.2016 | Scientific Letter
Succinic Semialdehyde Dehydrogenase Deficiency Presenting as Autism Spectrum Disorder
verfasst von:
Maria Gogou, Martha Spilioti, Despoina Tramma, Efimia Papadopoulou-Alataki, Athanasios Evangeliou
Erschienen in:
Indian Journal of Pediatrics
|
Ausgabe 9/2016
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Excerpt
To the Editor: A 10-y-old boy with autism spectrum disorder (DSM IV criteria) and normal perinatal history presented to our outpatient clinic for investigation. Evaluation revealed declined fine motor development, moderate language development, repetitive behavior, attention deficit and hyperactivity. Common laboratory tests, electroencephalogram and Magnetic Resonance Imaging (MRI) of the brain were normal. The metabolic screening requested revealed an elevated concentration of 4-hydroxy-butyric acid in urine (60.8 mmol/mol creatinine of urine, normal values: 0). Genetic test revealed two pathogenic mutations in the ALDH5A1 gene, thus confirming diagnosis of succinic semialdehyde dehydrogenase deficiency (SSADHD). Treatment with vigabatrin was initiated without clinical improvement. …
