Adenylosuccinate lyase (ADSL) deficiency is an autosomal recessive inherited neurometabolic disorder with a defect in purine metabolism 1-3.
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Epidemiology
Adenylosuccinate lyase deficiency is very rare 1,2 with only about 80 cases reported up to 2014 1.
Diagnosis
Diagnosis relies on genetic and biochemical testing including 1-3:
proof of succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S-Ado) in body fluids
genomic or cDNA sequencing with characterization of mutant proteins
However, radiologists can play a crucial role in initiating the diagnostic process 4,5.
Clinical presentation
Clinical presentation can be variable with a wide spectrum of symptoms 1,2.
Pathology
Genetics
Adenylosuccinate lyase deficiency is characterized by a mutation in the ADSL gene 2.
Radiographic features
MRI
In adenylosuccinate lyase deficiency, MRI findings may include the following 4,5:
delayed myelination/hypomyelination
ventriculomegaly
enlargement of the subarachnoid spaces
abnormal white matter signal changes
cerebral or cerebellar volume loss (typically presenting within the first few months of life)
History and etymology
Adenylosuccinate lyase deficiency was first described by the Belgian internist Jaak Jaeken and the Belgian pediatrician Georges van den Berghe in 1984 7.
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