Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III

Table 1

Clinical information and laboratory data of the patients at the first visit.

Patients	1	2
Sex	M	F
Age of onset (years)	1	2.5
Age of diagnosis (years)	1.08	2.58
Height at diagnosis (cm)	—	83 (−2.44 SDS)
Weight at diagnosis (kg)	11.5	13
Disease course (years)	14.58	6.92
AST (U/L)	755	558
ALT (U/L)	558	415
TC (mmol/L)	2.85	4.07
TG (mmol/L)	1.48	4.27
HDL (mmol/L)	0.56	0.52
LDL (mmol/L)	1.55	2.75
LDH (U/L)	564	533
CK (U/L)	—	69
Creatinine (μmol/L)	22	20
BUN	2.38	2.61
Fasting blood glucose (mmol/L)	2	7.43
Lactic acid (mmol/L)	1.57	9.68
Pyruvate (μmol/L)	1.76	142.7
Blood ammonia	68.3	102
Uric acid (μmol/L)	469.1	341.1
PH value	4.797	7.32
BE	−4.8	−9.5
Liver size (cm) below the right midline of the clavicle	5.8	7
PAS	—	(+)

AST, aspartate aminotransferase; ALT, alanine aminotransferase; TC, total cholesterol; TG, triglyceride; HDL, high-density lipoprotein; LDL, low-density lipoprotein; LDH, lactate dehydrogenase; CK, creatine kinase; BUN, blood urea nitrogen; BE, base excess; PAS, periodic acid-Schiff.