Adenylosuccinate lyase deficiency
What is Adenylosuccinate lyase deficiency?
A disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Other condition names
- ADSL deficiency
- Adenylosuccinase deficiency
Inheritance type
Autosomal recessive
Prevalence
- Worldwide: <1 in 1,000 000
Age of Onset
- Childhood
- Infancy
- Neonatal
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