Table 1.

Summary of previous reports on gout in glycogen storage disease (GSD) type Ia

		Age of GSD (years)	Age of gout (yrs)	SUA (μmol/L)	Serum lactate (mmol/L)	Total triglyceride (mmol/L)	Fasting glucose (mmol/L)	Growth retardation	Reproduction system	Other presentation	GSD diagnosis	Ref
–a	F	27	19	789	7.4	6.22	3.6	No	Irregular menses, infertility		Sequencingb
1	M	4	30	648	–f	2.37	–f	–f	–f	Anemia, paralysis due to axial gout	Liver biopsy	[3]
2	F	23	20	567	–f	13.08	3.1	–f	–f	Elevated liver enzyme, myopathy	Liver biopsy	[4]
3	M	18	21	492	2.08	–f		Yes	Delayed puberty	Renal failure; multiple hepatic cysts	Enzyme activity test	[5]
4	F	6	29	474	2.5	–f	3.6	Yes	Irregular menses, spontaneous abortion	Renal failure; multiple cysts	Enzyme activity test	[5]
5	M	28	16	830	10.2	2.14	2.9	–f	–f	Anemia; hepatic adenoma	Liver biopsy	[6]
6	M	17	17	680	7	3.26	3.9	–f	–f	Epilepsy	Liver biopsy, enzyme activity testing and sequencingc	[7]
7	F	14	14	625	4.42	3.30	–f	–f	–f		Sequencingc	[7]
8	M	0.75e	21	711	High	–f	Low	Yes	–f	Multiple liver adenomas	Liver biopsy, enzyme activity test	[8]
9	M	32	21	690	4.21	3.52	3.6	No	Normal	Multiple liver adenomas	Sequencingd	[9]
10	F	34	18	534	2.49	10.45	3.7	No	Normal		Sequencingd	[9]
11	F	40	14	792	3.54	21.89	4.3	Yes	Normal		Liver biopsy, enzyme activity testing	[10]
12	F	30	23	486	5.1	27.40	3.3	Yes	Normal	Decreased uric acid excretion	Liver biopsy	[11]
13	M	28	24	900	6.35	12.9	3.2	Yes	Normal	Decreased uric acid excretion	Liver biopsy	[11]
14	M	18	15	780	4.69	16.93	2.8	Yes	Decreased puberty		Liver biopsy of a sibling	[12]
15	F	32	24	590	12	Elevated	2.5	Yes	Delayed menarche		Intravenous galactose experiment	[13]
16	M	4	18	339	–f	17.5	2.8	Yes	–f		Liver biopsy	[14]

^aThe case presented in this report

^bp.V64L/p.R170X composite heterozygotes

^cp.R83C/p.M5R composite heterozygotes

^dp.M121V homozygous

^eDiagnosis of GSD at the age of 9 months

–^fNo records