Understanding acute metabolic decompensation in propionic and methylmalonic acidemias: a deep metabolic phenotyping approach

Table 1 patient and sample inclusion

Patient	Sex	Age (y)	Gene	Cobalamin resp	Presentation	Number of AMD per patient year	Number of samples
							Targeted analysis clinical laboratory			Targeted metabolic assays			Untargeted DI-HRMS in plasma			Untargeted DI-HRMS in DBS
							Total	No AMD	AMD	Total	No AMD	AMD	Total	No AMD	AMD	Total	No AMD	AMD
P.01	F	19.6	MUT	No	Early	0.4	217	46	19	96	43	5	20	11	1	15	0	1
P.02	M	11.9	MUT	No	Late	0.9	43	28	0	69	59	0	20	19	0	11	10	0
P.03	F	11.0	MUT	Yes	Late	0.1	6	6	0	18	17	1	8	8	0	7	7	0
P.04	F	7.2	MUT	No	Late	0.5	1	1	0	2	2	0	1	1	0	0	0	0
P.05	M	7.5	MUT	Yes	Late	2.1	1	0	0	6	0	0	0	0	0	0	0	0
P.06	F	20.2	MMAA	Yes	Early	0.1	79	52	1	76	59	1	18	14	0	7	7	0
P.07^a	F	16.2	MMAA	Yes	Early	0.1	87	37	2	57	41	0	6	4	0	3	3	0
P.08^a	M	^b, 0.3	MMAA	Yes	Late		0	0	0	2	0	0	0	0	0	0	0	0
P.09	M	13.9	MMAA	Yes	Late	0.1	7	7	0	7	7	0	2	2	0	2	2	0
P.10	F	11.1	MMAA	Yes	Late	0.1	44	0	3	60	1	1	13	0	1	19	1	1
P.11	F	40.6	MMAB	Yes	Late	0.0	25	10	0	16	11	0	2	1	0	0	0	0
P.12	M	0.1	MUT	No	Early		0	0	0	7	0	0	0	0	0	0	0	0
P.13	M	37.3	MMA, unclass	Yes	Early	0.0	0	0	0	19	0	0	0	0	0	0	0	0
							510	187	25	435	240	8	90	60	2	64	30	2
P.14	F	23.1	PA, unclass		Early	0.6	369	18	38	106	3	14	18	0	2	7	0	1
P.15^a	F	^b, 2.9	PA, unclass		Early	4.1	33	28	3	0	0	0	1	1	0	0	0	0
P.16^a	M	12.5	PA, unclass		Family	2.4	92	6	19	21	3	3	9	1	2	13	0	2
P.17	F	17.6	PCCB		Early	0.7	206	6	23	92	0	9	29	9	4	24	0	4
P.18	F	17.9	PCCA		Early	0.7	251	64	31	128	50	12	37	11	4	30	0	4
P.19	F	8.6	PCCB		Early	2.6	157	5	36	14	1	3	9	1	3	7	0	2
P.20	M	^b, 7.5	PCCB		Early	0.3	0	0	0	19	0	0	0	0	0	0	0	0
P.21	F	24.6	PCCA		Late	0.2	16	0	0	7	0	0	1	0	0	0	0	0
P.22^a	M	^b, 19.1	PCCB		Late	0.3	80	1	2	72	2	0	12	0	0	0	0	0
P.23^a	M	19.1	PCCB		Family	0.1	62	32	4	61	32	1	19	9	0	11	0	0
P.24	M	20.4	PCCA		Late	0.2	11	0	1	7	0	0	4	0	0	3	0	0
							1277	160	157	527	91	42	139	23	15	95	0	13

Subtotals are depicted in bold. ^aP.07 and P.08, P.15 and P.16, and P.22 and P.23 are pairs of siblings. Early onset: presentation < 28 days of life; Late onset: presentation > 28 days of life. Family: diagnosis at birth through an affected sibling. Abbreviations: AMD acute metabolic decompensation, F female, M male, unclass genetic defect is unclassified, (y) years; ^bpassed away

ISSN: 1750-1172