. Author manuscript; available in PMC: 2013 Aug 27.

Published in final edited form as: Mol Genet Metab. 2011 Oct 7;105(1):34–43. doi: 10.1016/j.ymgme.2011.09.032

Table 2.

Enzymological classification and age of clinical presentation in 366 cases of PDC deficiency.

	Patients (%)	Males (%)	Consanguinity (%)	PDC Activity (% of nl)	Age of clinical onset (mos)
Total	371 (100)	52.1	6.8	37 ± 34.6	8.0 ± 15.8
E1	65 (17.5)	58.4	0	38. 8 ± 25.9	7.3 ± 15.7
E1a	210 (56.6)	50.4	1	41.7 ± 39.2	8.9 ± 17.3
E1b	9 (2.4)	55.6	55.6	24.2 ± 22.2	3.1 ± 6.2
E2	4 (1.1)	50	66.7	48.5 ± 16	9.0 ± 8.6
E3	20 (5.1)	66.7	13.3	48.5 ± 21.2	5.9 ± 9.5
E3BP	23 (6.2)	60.8	60.8	18.1 ± 13.2	5 ± 10.2
Unclassified	40 (10.8)	46.9	0	42.3 ± 30.2	9.3 ± 16.6

Cases included as E1 deficiency were those in which a defect in the alpha or beta subunit was not described.