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Table 2 Summary of the clinical features of six GSD IX patients with PHKA2 mutation

From: PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations

Patient no. Sex Age (yr)a Hepato-megaly Epistaxis Short statureb Hypo-glycemia Hyper-uricemiac Hyper-lactic acidemiad Hyper-lipidemiae CK increasef Persistent hepatomegaly Follow-up period (mo)
1 M 2 Yes No No No No Yes Yes No Yes 13
2 M 6 Yes No No Yesg No Yes No No No 26
3 M 4 Yes Yes Yes No No Yes No No No 178
4h M 2 Yes Yes Yes No No Yes Yes No Yesi 48
5 M 2 Yes No No No No Yes Yes No Yes 33
6 M 4 Yes No No Yesg No Yes No Not done Yes 4
  1. aAge at first diagnostic workup
  2. bShort stature was defined as height below the 3rd percentile for age by Korean Children and Adolescents Growth Standard
  3. cUric acid level > 7.2 mg/dL for at least one measurement during follow-up period
  4. dLactic acid level > 2.2 mmol/L for at least one measurement during follow-up period
  5. eTotal cholesterol > 240 mg/dL and/or triglyceride >200 mg/dL for at least one measurement during follow-up period
  6. fSerum creatine kinase >204 IU/L for at least one measurement during follow-up period
  7. gGlucose monitoring in which blood glucose was measured upon waking in the morning in a fasting state identified one episode of asymptomatic fasting hypoglycemia (<70 mg/dL) during the follow-up period. The patient did not experience symptomatic hypoglycemia
  8. hX-linked inheritance was identified by maternal PHKA2 mutation analysis
  9. iMild improvement from two fingerbreadths to one fingerbreadth during follow-up period