Table 1.
Syndrome | Gene | Chromosome | Inheritance | Phenotype |
---|---|---|---|---|
Congenital errors of purine metabolism | ||||
Hypoxanthine guanine phosphoribosyl transferase-related disease9 | HPRT1 | Xq26.2–q26.3 | XD | Neurological dysfunction, hyperuricaemia, gout |
Phosphoribosyl pyrophosphatase synthetase-related disease22 | PRPS1 | Xq22.3 | XD | Hyperuricaemia, gout, neurological impairment |
Excessive cell death and urate generation | ||||
Glycogen storage disease-Ia12 | G6PC | 17q21.31 | AR | Growth retardation, lactic acidosis, hypoglycaemia, hepatomegaly, hyperuricaemia, gout |
Glycogen storage disease-Ib12,13 | SLC37A4 | 11q23.3 | AR | Growth retardation, lactic acidosis, hypoglycaemia, hepatomegaly, hyperuricaemia, gout |
Glycogen storage disease-III12,13 | AGL | 1q21.2 | AR | Early-onset hyperuricaemia, gout |
Glycogen storage disease-V12 | PYGM | 11q13.1 | AR | Early-onset hyperuricaemia, gout |
Glycogen storage disease-VII12,14 | PFKM | 2q13.11 | AR | Early-onset hyperuricaemia, gout |
Late-onset carnitine palmitoyltransferase II deficiency116 | CPT2 | 1p32.3 | AR | Rhabdomyolysis, myoglobinuria, hyperuricaemia, gout |
Myoadenylate deaminase deficiency15 | AMPD1 | 1p13.2 | AR or AD | Myopathy, hyperuricaemia, gout |
Short chain, acyl-CoA dehydrogenase deficiency16 | ACADS | 12q24.31 | AR | Metabolic acidosis, neurological impairment, myopathy, hyperuricaemia, gout |
Fructose-1-phosphate aldolase deficiency17 | ALDOB | 9q31.1 | AR or AD | Fructose intolerance, liver failure, renal tubulopathy, growth retardation, hyperuricaemia, gout |
Reduced renal excretion of uric acid | ||||
Medullary cystic kidney disease, type 118 | Unknown | 1q21 | AD | Variable penetrance, renal dysfunction, hypertension, gout |
Medullary cystic kidney disease, type 219,20 | UMOD | 16p12.3 | AD or AR | Progressive renal dysfunction, variable hyperuricaemia, early-onset gout |
Familial juvenile hyperuricemic nephropathy21 | UMOD | 16p12.3 | AD | Progressive renal dysfunction, variable hyperuricaemia, early-onset gout |
Abbreviations: AD, autosomal dominant; AR, autosomal recessive; XD, X-linked dominant.