CSF neurotransmitter screening The diagnosis of SR deficiency is based on the analysis of the pterins and biogenic amines found in the cerebrospinal fluid (CSF) of the brain. The pterin compound functions as a cofactor in enzyme catalysis and biogenic amines which include adrenaline, dopamine, and serotonin have functions that vary from the control of homeostasis to the management of cognitive tasks. This analysis reveals decreased concentrations of homovanillic acid (HVA), 5-hydroxyindolacetic acid (HIAA), and elevated levels of 7,8-dihydrobiopterin, a compound produced in the synthesis of neurotransmitters.<unk>  is not detected by the regularly used methods applied in the investigation of biogenic monoamines metabolites in the cerebrospinal fluid. It must be determined by specialized methods that work by indicating a marked and abnormal increase of<unk>  in cerebrospinal fluid. Confirmation of the diagnosis occurs by demonstrating high levels of CSF<unk>  and a marked decrease of SR activity of the fibroblasts along with SPR gene molecular analysis.
Sepiapterin reductase deficiency
Enolase deficiency
Holocarboxylase synthetase deficiency
Ornithine translocase deficiency
Carbamoyl phosphate synthetase I deficiency
Malonyl-CoA decarboxylase deficiency
Glutathione synthetase deficiency
Mevalonate kinase deficiency