Table 1 Demographic data and clinical findings in 37 children with MMA.

From: Brain MRI features of methylmalonic acidemia in children: the relationship between neuropsychological scores and MRI findings

Patient	Gender	AP (m)	AI (m)	Gene type #	The group of by clinical screening*	First presenting symptom	0–6-year-old pediatric examination table of neuropsychological development
Patient	Gender	AP (m)	AI (m)	Gene type #	The group of by clinical screening*	First presenting symptom	Big activity sport	Fine sport	Adaptive capacity	Language capacity	Social behavior	Development quotient	Developmental quotient evaluation
1	M	18	19	cbIC (MMA-h)	SS	Developmental regression; hypotonia; respiratory distress	33.1	24.8	0	33.1	0	18.2	Low
2	F	23	23	cbIC (MMA-h)	SS	Psychomotor delay	81	71	65	55	71	68.6	Low
3	F	6	7	cbIC (MMA-h)	SS	Growth retardation	58.8	49	39.2	49	53.9	50	Low
4	M	6	6	cbIC (MMA-h)	SS	Growth retardation; seizure	83.3	90.9	75.8	90.9	90.9	86.4	Normal
5	M	1	1	cbIC (MMA-h)	SS	Respiratory distress	86	89	88	90	91	88.8	Normal
6	M	30	32	cbIC (MMA-h)	SS	Coma; recurrent vomiting	85.5	87	90	93	89.5	89	Normal
7	M	21	24	cbIC (MMA-h)	SS	Lethargy	90	94	86	91.5	94	91.1	Normal
8	F	47	48	mut(i-MMA)	SS	Developmental regression	87	90	91	93	88	89.8	Normal
9	M	60	60	mut(i-MMA)	NS	Screening	93.2	93.2	93.2	103	93.2	95	Normal
10	F	41	41	cbIC (MMA-h)	SS	Skeletal abnormality; lethargy	42.4	72.7	69.6	72.7	90.9	69	Low
11	M	19	19	cbIC (MMA-h)	SS	Recurrent vomiting	70	69.5	72	73	71	71.1	Lower
12	M	35	35	cbIC (MMA-h)	NS	Screening; lethargy	109.2	70.2	98.8	88.4	88.4	91	Normal
13	M	10	10	cbIC (MMA-h)	SS	Developmental regression	97.8	73.4	73.4	73.4	59.8	75.5	Lower
14	M	10	11	cbIC (MMA-h)	NS	Screening	69	103.4	107.8	94.8	94.8	94	Normal
15	M	0.5	0.5	cbIC (MMA-h)	NS	Screening; emesis psychomotor delay	89	80	81	82	79	82.2	Lower
16	M	5	6	cbIC (MMA-h)	NS	Screening	70.3	85.9	93.8	93.8	85.9	85.9	Normal
17	M	3	4	cbIC (MMA-h)	NS	Screening; poor feeding	81.4	69.8	87.2	69.8	69.8	75.6	Lower
18	F	1.1	1.5	cbIC (MMA-h)	NS	Screening	82	65.6	69.7	57.4	73.8	69.7	Low
19	M	1.0	1.5	cbIC (MMA-h)	NS	Screening	75.9	75.9	71.4	53.6	71.4	69.6	Low
20	M	1	1	cbIC (MMA-h)	NS	Screening	108	85.2	108	68.2	90.9	92	Normal
21	M	0.4	0.5	cbIC (MMA-h)	NS	Screening	80	78	81	76	83	79.6	Lower
22	M	4	5	cbIC (MMA-h)	NS	Screening	119.2	72.8	79.5	79.5	69.5	84.0	Lower
23	F	5	5	cbIC (MMA-h)	NS	Screening	85.9	82	82	85.9	78.1	82.8	Lower
24	M	3	3	cbIC (MMA-h)	SS	Poor feeding; convulsion	62.5	80.4	80.4	71.4	89.3	76.8	Lower
25	M	4.5	5	mut(i-MMA)	NS	Screening	63.4	77.5	77.5	84.5	77.5	76.1	Lower
26	F	5	6	cbIC (MMA-h)	NS	Screening	67	93	56.8	56.8	82	70	Lower
27	M	7	9	cbIC (MMA-h)	SS	Seizure	84.4	61.7	80.2	74.1	61.7	72.8	Lower
28	M	2.6	2.9	cbIC (MMA-h)	SS	Recurrent vomiting	36	38	33	40	37	36,8	Low
29	M	3	4	cbIC (MMA-h)	NS	Screening; Seizure	64.9	32.5	45.5	64.9	51.9	51.9	Low
30	M	24	26	cbIC (MMA-h)	SS	Developmental regression	29	30	33	32	29	30.6	Low
31	M	4	5	cbIC (MMA-h)	NS	Screening	83.3	76.4	90.3	83.3	83.3	83.3	Lower
32	M	58	60	cbIC (MMA-h)	SS	Agitation	89	91	93	85	82	88	Normal
33	F	54	55	cbIC (MMA-h)	SS	Psychomotor delay	46.6	32.9	43.9	38.4	41.1	40.6	Low
34	M	11	13	cbIC (MMA-h)	NS	Screening	77.5	77.5	81.4	73.6	77.5	77.5	Lower
35	M	7.1	7.7	cbIC (MMA-h)	NS	Screening	40	39	38	37	41	39	Low
36	F	11	12	cbIC (MMA-h)	NS	Screening; agitation	88.4	73.2	79.3	61	64	73.2	Lower
37	F	70	72	cbIC (MMA-h)	SS	Microcephalus	24.3	28.4	18.2	20.3	20.3	22.3	Low

AP age at presentation, AI age at the time of imaging, m months, ,i-MMA isolated MMA, MMA-h MMA combined with homocysteinemia.
*NS stands for the patients were genetically newborn screening for neonatal genetic diseases after birth, SS stands for the patients received blood and genetic screening after suspected symptoms. Developmental quotient evaluation: normal, 85–++4; lower, 70–84; low,≤69.

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Table 1 Demographic data and clinical findings in 37 children with MMA.

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