adenylosuccinase lyase deficiency

An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency.

Signs and symptoms

• Elevated urinary succinyladenosine level
• Thin upper lip vermilion
• Global developmental delay
• Elevated urinary succinylaminoimidazole carboxamide riboside level
• Cerebral atrophy
• Hypotonia
• Reduced eye contact
• CNS hypomyelination
• Microcephaly
• Strabismus