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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
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on
"https://www.orphadata.com"
. Data version 1.3.16 / 4.1.7.