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

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

Patient no.	Sex	Age (yr)^a	Hepato-megaly	Epistaxis	Short stature^b	Hypo-glycemia	Hyper-uricemia^c	Hyper-lactic acidemia^d	Hyper-lipidemia^e	CK increase^f	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	Yes^g	No	Yes	No	No	No	26
3	M	4	Yes	Yes	Yes	No	No	Yes	No	No	No	178
4^h	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	Yes^g	No	Yes	No	Not done	Yes	4

^aAge at first diagnostic workup
^bShort stature was defined as height below the 3rd percentile for age by Korean Children and Adolescents Growth Standard
^cUric acid level > 7.2 mg/dL for at least one measurement during follow-up period
^dLactic acid level > 2.2 mmol/L for at least one measurement during follow-up period
^eTotal cholesterol > 240 mg/dL and/or triglyceride >200 mg/dL for at least one measurement during follow-up period
^fSerum creatine kinase >204 IU/L for at least one measurement during follow-up period
^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
^hX-linked inheritance was identified by maternal PHKA2 mutation analysis
ⁱMild improvement from two fingerbreadths to one fingerbreadth during follow-up period

ISSN: 1471-2350