Galactose-1-phosphate uridylyltransferase deficiency [94]SUCLG1 deficiency [29]Hypoxanthine guanine phosphoribosyltransferase deficiency (Lesch-Nyhan syndrome) [35]OPA3 deficiency [47]Birk-Landau-Perez syndrome [78]. The gene discussed is SUCLG1; the disease is psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome.