Table 3.

Variable phenotypes and factors in 130 patients with MMACHC c. 609G > A homozygous mutation

Symptoms and signs		Cases	Age at onset	Age at treatment initiation	Time delays from onset to treatment initiation	Urinary methylmalonic acid pre-treatment	Blood tHcy pre-treatment	Blood methionine pre-treatment
			(months)	(months)	(months)	(mmol/mol creatinine)	(μmol/L)	(μmol/L)
		n	Median (P25, P75)	Median (P25, P75)	Median (P25, P75)	Median (P25, P75)	Median (P25, P75)	Median (P25, P75)
Seizures	N	65	3.0 (1.0, 15.0)	6.5 (2.0, 34.0)	1.5 (0.0, 18.3)	184.7 (43.5, 560.1)	99.8 (73.7, 129.6)	9.7 (7.0, 20.4)
	Y	65	2.0 (0.9, 5.0)	5.5 (3.0, 27.0)	2.3 (1.0, 12.0)	493.4 (259.9, 906.8)	96.0 (58.8, 151.7)	16.0 (10.4, 21.5)
Z			−1.407	−0.031	−0.893	−2.239	− 0.304	− 0.87
P			0.159	0. 975	0.372	0.025	0.761	0.406
Developmental delay	N	38	1.0 (0.7, 3.0)	3.0 (1.5, 5.5)	1.5 (0.9, 2.3)	164.6 (35.0, 664.9)	102.9 (65.3, 142.6)	16.0 (9.4, 20.4)
	Y	92	3.0 (1.0, 12)	12.0 (3.3, 36)	6.0 (0.5, 25.0)	443.6 (199.2, 722.1)	88.0 (59.1, 147.7)	10.4 (6.5, 22.6)
Z			−2.892	−3.746	− 2.017	−1.481	−0.313	− 0.707
P			0.004	< 0.001	0.044	0.14	0.754	0.503
Hydrocephalus	N	108	2.0 (1.0, 10.0)	8.0 (3.0, 34.0)	2.0 (0.5, 18.0)	282.1 (76.7, 768.1)	93.0 (63.0, 143.7)	14.0 (8.1, 20.4)
	Y	22	2.0 (1.0–4.0)	4.0 (2.8–0.5)	1.8 (0.9–6.8)	500.0 (257.3–560.1)	101.0 (59.1–161.9)	14.0 (5.7–21.5)
Z			−0.487	−0.92	− 0.531	− 0.608	−0.546	− 0.445
P			0.626	0.357	0.595	0.552	0.593	0.695
Anemia	N	93	3.0 (1.0, 7.8)	8.0 (3.0, 34)	3.0 (0.0, 24)	292.6 (92.3, 676.1)	87.2 (58.8, 127.1)	13.8 (7.4, 22.3)
	Y	37	2.0 (1.0, 5.0)	3.0 (2.0, 18.0)	1.5 (1.0, 9.0)	442.3 (97.0, 672.9)	137.3 (74.3, 164.9)	12.2 (6.7, 16.2)
Z			−0.622	−2.185	−0.777	−0.014	−2.172	− 0.64
P			0.534	0.029	0.437	0.989	0.03	0.56

Notes: n number, N No, Y Yes, Z Mann–Whitney U Z-score; P value was calculated by using a nonparametric unpaired Mann-Whitney U test. P < 0.05 was considered as statistically significant