We evaluated the effects of current therapy on the 24-h biochemical profile, the occurrence of significant hypoglycemia, and the long-term effects of CGT on physical growth and development, and the complications of GSD-1 in 17 patients (11 male), median age 14.2 (5.3 - 21.4) y.

CGT was started at a median age of 0.9 (0.1 - 1.6) y. At their most recent evaluation, subjects had received CGT for a median duration of 13.9 y (4.6 - 20.7 y) and uncooked cornstarch (UCS) for a median of 11 (3.5 - 12.9) y. Subjects followed their usual home dietary regimens with UCS supplements at 2- 4 h intervals during the day and at 4 - 8 h intervals during the night. Blood samples were obtained at hourly intervals for 24-h during which mean plasma glucose (PG) and blood lactate concentrations were >70 mg/dl and 2 - 4 mmol/L, respectively. From 24:00 - 08:00 h, 7 (41%), 10 (59%), and 13 (76%) subjects had PG ≥70, ≥60, and ≥50 mg/dl, respectively; 4 subjects had transient PG levels ≤50 mg/dl. The highest mean blood lactate levels (≥3 mmol/L) were between 02:00 - 09:00 h. Median height SDSCA was -0.8(-3.3 - 1.2), significantly (P = 0.002) less than median mid-parental height SDS of -0.1 (-2.1 - 1.4); median weight SDS was 0.1 (-1.3 - 3.3).

Six (35%) subjects (12.2 - 21.4 y) had anemia of chronic disease with hemoglobin concentrations of 9.8 - 11.6 g/dl. Ultrasound examination showed≥1 focal hepatic lesion consistent with an adenoma in 5 (29%) subjects(10.4 - 21.4 y); serum alpha-fetoprotein and carcinoembryonic antigen levels were normal in all subjects. Glomerular hyperfiltration was present in 16/17 subjects and urinary albumin excretion was increased (50 and 32 mg/24-h) in 2 subjects, 15.9 and 21.1 y, respectively.

Conclusion: near normal 24-h plasma glucose and blood lactate concentrations are attainable with UCS. Transient nocturnal hypoglycemia, however, was not completely prevented. No subject treated with UCS had a hypoglycemic seizure or loss of consciousness. Long-term CGT with UCS, begun in infancy, resulted in median height 0.7 SDS below target height. Renal glomerular dysfunction and formation of hepatic adenomata remain serious long-term complications.