ORPHA:22
Succinic semialdehyde dehydrogenase deficiency
Also called 4-hydroxybutyric aciduria, Gamma-hydroxybutyric aciduria, SSADH deficiency
- Body system
- Inborn errors of metabolism
- Inheritance pattern
- Autosomal recessive
- Typical age of onset
- Childhood, Infancy, Neonatal
- Estimated prevalence
- 1-9 / 1 000 000 (Worldwide)
- Rarity class
- 1-9 / 1 000 000
ORPHA:22 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.
Common signs
- Intellectual disability
- Ataxia
- Hypotonia
- Global developmental delay
- Abnormality of metabolism/homeostasis
- Atypical behavior