. Author manuscript; available in PMC: 2012 Mar 27.

Published in final edited form as: J Clin Endocrinol Metab. 2001 Aug;86(8):3724–3728. doi: 10.1210/jcem.86.8.7755

TABLE 1.

Patients with HI/HA syndrome

Patient no.	Gender	Age (yr)	GLUD1 mutation	Plasma ammonium (normal, 9–33 μmol/liter)
1	F	1	Ser⁴⁴⁸Pro	100
2	F	3	Lys⁴⁵⁰Glu	80–90
3	F	3	Arg²⁶⁹His	40–70
4	M	10	His⁴⁵⁴Tyr	128
5	F	15	Arg²⁶⁹His	75–92
6	M	29	Arg²⁶⁹His	164
7	F	11	Pending	50–80