In terms of the diagnosis of<unk>  one should look for (or exam/method): * MRI * Demonstration of succinylpurines in extracellular fluids like plasma, cerebrospinal fluid and/or urine using high-pressure liquid chromatography, with or without mass spectroscopy * Genetic testing - genomic cDNA sequencing of the ADSL gene and characterization of mutant proteins.
Adenylosuccinate lyase deficiency
Guanidinoacetate methyltransferase deficiency
Malonyl-CoA decarboxylase deficiency
Mevalonate kinase deficiency
Aminoacylase 1 deficiency
Carbamoyl phosphate synthetase I deficiency
2,4 Dienoyl-CoA reductase deficiency
Galactose-1-phosphate uridylyltransferase deficiency