Table 1.

Mendelian syndromes associated with hyperuricaemia and gout

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.