Adenylosuccinate lyase deficiency is an autosomal-recessive disorder of the purine de novo synthesis pathway. Mental retardation is a major manifestation and most patients have seizures.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C55 Inborn errors of purine, pyrimidine or nucleotide metabolism
H00197 Adenylosuccinate lyase deficiency
