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4-hydroxybutyric aciduria

Synonym(s) Succinic semialdehyde dehydrogenase deficiency
Prevalence Unknown
Inheritance Autosomal recessive
Age of onset Childhood
  • E72.8
MeSH -
MedDRA -


4-hydroxybutyric aciduria is a rare neurometabolic disorder of gamma aminobutyric acid (GABA) metabolism with a nonspecific clinical presentation (ranging from mild to severe), with the most frequent symptoms including ataxia, hypotonia, developmental delay, intellectual disability, behavioral dysregulation, hyporeflexia and epilepsy.

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Article for general public
Clinical genetics review
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