Skip to main content

Table 3 Frequencies of late complications in adult Korean patients with GSD Ia

From: Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia

Total patients (n = 26)a

n (%)

Hepatomegaly

26 (100%)

Dyslipidemia

26 (100%)

Hepatic adenoma

14 (54%)

Renal complication

13 (50%)

Osteopenia or fracture

12 (46%)

Short stature (SDS: < −2.0)

12 (46%)

Anemia

12 (46%)

Delayed puberty

11 (42%)

Gout

7 (27%)

Pulmonary hypertension

2 (8%)

Hepatocellular carcinoma

2 (8%)

  1. a15 males and 11 females
  2. SDS, standard deviation score