TABLE II.

Demographic, Cellular Enzymology. Molecular Genetic Testing, and Clinical Characteristics

Pt	Age at Evaluation (years)	Age at Diagnosis (months)	Sex	Subtype	Gene	Mutation 1	Mutation 2	Presentation	Major Co-morbidities
1	2	0.2	f	mut0, early onset	MUT	c.1106G>A p.R369H	c.682C>T p.R228X	HA, Hypotonia, +NBS, Leukopenia
2	2	10	m	cblA	MMAA	c.433C>T p.R145X	c.1076G>A p.R359Q	BGI, MA	BGI
3	2	23	m	cblA	MMAA	c.592_595delACTG p.T198SfsX6	c.387C>A p.Y129X	BGI, MA, Lethargy	BGI
4	3	0, NBS	m	mut−, P/NBS	MUT	c.1942G>C p.G642R	c.1181T>A p.L394X	+NBS, Asymptomatic
5	3	0.1	f	mut−, early onset	MUT	c.281G>T p.G94V	c.2150G>T p.G717V	HA, MA, Hypotonia	BGI
6	3	0.1	f	mut0, early onset	MUT	c.607G>A p.G203R	c.682C>T p.R228X	HA, MA, Lethargy, Hypothermia
7	4	0.1	f	mut0, early onset	MUT	c.1207C>T p.R403X	c.2008G>C p.G670R	Lethargy, FTT
8	5	0, prenatal	f	mut0, P/NBS	MUT	c.2053dupCTC p.685insL	c.91C>T p.R31X	Affected sibling, Asymptomatic	BGI
9	6	0.1	f	mut0, early onset	MUT	c.927G>A p.W309X	c.983T>C p.L328P	HA, MA, Lethargy
10	6	0.1	m	mut0, early onset	MUT	c.670G>T p.E224X	c.682C>T p.R228X	HA, MA, Hypothermia, Hypoglycemia
11	6	0.1	m	mut0, early onset	MUT	c.17241C>T p.R581X	c.753+2T>A p.splice	HA, MA, Hypothermia
12	7	0, NBS	f	mut0, P/NBS	MUT	c.1942G>C p.G642R	c.1942G>C p.G642R	+NBS, Asymptomatic
13	7	0.2	m	mut0, early onset	MUT	c.1106G>A p.R369H
						c.1778_1782delAAAGT p.S594RfsX11	Recurrent emesis, FTT
14	7	7	m	mut0, late onset	MUT	c.1867G>C p.G623R	c.281G>T p.G94V	HA, MA, Lethargy, Hypoglycemia	BGI
15	7	3	m	mut0, early onset	MUT	c.1301_1302delTC p.L434HfsX3	c.1844C>G p.P615R	Recurrent emesis, FTT
16	8	11	f	cblB	MMAB	c.556C>T p.R186W	c.556C>T p.R186W	MA, FTT	BGI
17	9	0.75	m	mut0, early onset	MUT	c.1105C>T p.R369C	c.1207C>T p.R403X	Recurrent emesis, FTT
18	10	0.1	f	mut0, early onset	MUT	c.1867G>C p.G623R	c.323G>A p.R108H	MA	BGI
19	10	0.1	f	mut0, early onset	MUT	c.572C>A p.A191E	unknown	Recurrent emesis, FTT	BGI
20	10	0, prenatal	f	mut0, P/NBS	MUT	c.2053dupCTC p.685insL	c.91C>T p.R31X	Affected sibling, Asymptomatic
21	10	0.2	m	mut0, early onset	MUT	c.682C>T p.R228X	c.1332+1delG p.splice	MA, Lethargy
22	11	0.1	f	mut0, early onset	MUT	c.1658delT p.V553GfsX17	c.29dupT p.L11TfsX38	MA, FTT	Vision
23	11	0.1	m	mut0, early onset	MUT	c.682C>T p.R228X	c.682C>T p.R228X	HA, MA, Lethargy
24	12	0.1	m	mut0, early onset	MUT	c.1106G>A p.R369H	c.1106G>A p.R369H	MA, Recurrent emesis	Vision
25	13	16	m	cblA	MMAA	c.433C>T p.R145X	c.433C>T p.R145X	MA, Lethargy, Recurrent emesis
26	18	8	f	cblB	MMAB	c.556C>T p.R186W	c.556C>T p.R186W	MA, Hypotonia, FTT	BGI
27	18	10	m	mut0, early onset	MUT	c.572C>A p.A191E	c.655A>T p.N219Y	Recurrent emesis, FTT, Hypotonia	BGI
28	19	0.1	f	mut0, early onset	MUT	c.1106G>A p.R369H	c.1106G>A p.R369H	HA, MA, Lethargy, Hypothermia	BGI
29	22	0.1	m	mut0, early onset	MUT	c.572C>A p.A191E	c.682C>T p.R228X	MA, Recurrent emesis, Hypoglycemia	BGI, Hearing, Vision
30	22	7	m	mut0, early onset	MUT	c.1741C>T p.R581X	c.1741C>T p.R581X	HA, MA, Lethargy, Recurrent emesis	BGI, Vision
31	23	9	m	cblB, asympto-matic	MMAB	c.556C>T p.R186W	c.700C>T p.Q234X	Affected sibling, Asymptomatic
32	24	30	m	cblB	MMAB	c.556C>T p.R186W	c.700C>T p.Q234X	MA, FTT	BGI
33	24	3	f	mut−, early onset	MUT	c.2150G>T p.G717V	c.2150G>T p.G717V	Recurrent emesis	BGI, Vision
34	24	0.1	m	mut0, early onset	MUT	c.655A>T p.N219Y	c.1048C>T p.H350Y	HA, MA, Lethargy	BGI, Hearing
35	27	5	f	mut0, early onset	MUT	c.1106G>A p.R369H	c.826G>T p.E276X	MA, Hypotonia, Recurrent emesis, FTT	Hearing, Vision
36	32	13	m	cblA	MMAA	c.433C>T p.R145X	c.433C>T p.R145X	MA, BGI	BGI
37	33	18	m	cblA	MMAA	c.450dupG p.P151AfsX19	c.450dupG p.P151AfsX19	MA, BGI	BGI

BGI, basal ganglia injury; FTT, Failure to thrive; HA, hyperammonemia; MA, metabolic acidosis; NBS, newborn screening; Pt=patient. Early onset was defined as presentation of first symptoms prior to 30 days of life. Presenting symptoms were obtained through patient record review and/or parental interview.