Table 1.

Clinical features and gene mutation of GSD IIIa patients

	Patient 1		Patient 2		Patient 3		Patient 4
	first visit	last follow-up	first visit	last follow-up	first visit	last follow-up	first visit	last follow-up
Gender	male		male		female		male
Onset age (years)	1	/	2	/	1	/	1	/
Onset symptoms	abdominal distension	/	abdominal distension	/	abdominal distension	/	abdominal distension	/
Age (years)	16	18	32	34	22	24	14	16
Height(cm)	167	169	170	170	164	164	147	ND
Weight(kg)	60	62	75	75	77	80	46.5	ND
Complains	weakness, syncope, headache, irritability,	weakness relief	weakness	weakness relief	weakness	weakness relief	weakness	weakness relief
Myopathy	+	+/−	+	+/−	+	+/−	+	+/−
Hepatomegaly (below the costal margin>2 cm)	+	–	+	–	+	–	+	–
Cardiomypathy (LVPW>3.7 mm)	–	–	LVH	LVH (stationary)	LVH	LVH (stationary)	LVH	ND
Electrocardiography	–	ND	–	ND	–	ND	–	ND
Hypoglycemia	+	–	–	–	–	–	–	ND
Electromyogram	Mup in proximal limbs	ND	Mup in proximal limbs	ND	Mup in proximal limbs	ND	Mup in proximal limbs	ND
Muscle MRI	+	ND	+	ND	+	ND	+	ND
NCS	–	ND	–	ND	–	ND	–	ND
Creatine kinase (U/L)(24–195)	4000	1470	1126	2377	1190	ND	2785	ND
Alanine aminotransferase (U/L)(0–50)	199	244	103	104	78	32	108	ND
Aspartate aminotransferase (U/L)(0–50)	202	294	81	116	75	41	196	ND
Gamma-glutamyl transpeptidase(U/L)(16–73)	120	202	27	28	25	ND	70	ND
Lactate (mmol/l) (0.1–2.7)	2.5	ND	2.3	ND	1.8	ND	1.2	ND
Uric acid (mmol/l) (208–428)	346	332	359	581	293	ND	300	ND
Cholesterol (mmol/L) (3.55–5.20)	4.47	5.1	8.61	7.14	5.99	5.06	4.0	ND
Triglyceride (mmol/L) (0.45–1.81)	1.19	1.6	4.43	5.45	3.09	3.41	0.49	ND
Fasting blood glucose (mmol/L)(3.89–6.11)	2.3	3.8	5.0	4.18	4.5	6.23	4.41	ND
Urine ketone body	+	–	–	–	+	–	+	–
AGL mutation	AGL c.206dupA (homozygous)		AGL c.1735 + 1G > T (homozygous)		AGL c.1735 + 1G > T; c.2590 G>T (heterozygous)		AGL c.1735 + 1G > T; c.2590 G>T (heterozygous)

LVPW Left Ventricular Posterior Wall, LVH Left ventricular hypertrophy, MUP Motor unit potential, NCS Nerve Conduction Studies, ND not done