. 2022 Jun 23;45(5):937–951. doi: 10.1002/jimd.12525

TABLE 1.

Adult cblA defective patients: demographic, clinical, and molecular data

N/Family	Year of birth/sex	Onset Age	Dia MMA age	Dia cblA age	FU, y	Presenting symptoms	Initial diagnosis	Mutation	Consanguinity	Propionate incorporation (fibroblasts; variable methods used); °°ref range for proprionate incorporation: 35–60 nmol/mg/16 h ³¹		MCM activity (+ AdoCbl) ³²
N/Family	Year of birth/sex	Onset Age	Dia MMA age	Dia cblA age	FU, y	Presenting symptoms	Initial diagnosis	Mutation	Consanguinity	‐OHCbl	+ OHCbl
^a ^, ^e 1/Lond01	1980/M	3 m	6 m	NA	40	Acute encephalopathy	MMA B12‐U	c.433C > T p.Arg145* c.433C > T p.Arg145*	NA	NA	NA	NA
2/Lond02	1994/M	2 d	2 y	16	26	Acute encephalopathy	MMA B12‐U	c.433C > T p.Arg145* c.434G > A p.Arg145Gln	No	NA	NA	NA
^e 3/Lond04	1993/M	5 m	11 m	NA	27	Acute encephalopathy	MMA B12‐R	c.433C > T p.Arg145* c.586C > T p.Arg196*	No	NA	NA	NA
4/Lond05	1984/F	25 y	30 y	30 y	11	Muscle pain, chronic fatigue, headache	MMA B12‐R	c.791 T > C p.Leu264Pro c.‐66 + 2 T > C p.?	No	1.61 nmol/mg prot/16 h	11.7 nmol/mg prot/16 h	N
5/Lond05	1981/M	10 m	35 y	35 y	38	Psychomotor delay (after measles)	MMA B12‐R	c.791 T > C p.Leu264Pro c.‐66 + 2 T > C p.?	No	NA	NA	NA
^a ^, ^e 6/Lond06	1987/F	6 m	7 m	19 y	33	Acute encephalopathy	MMA B12‐U	c.728C > T p.Thr243Ile c.728C > T p.Thr243Ile	No	NA	NA	NA
^e 7/Lond07	1989/F	3 m	6 m	21 y	31	Acute encephalopathy	MMA B12‐U	NA	NA	0.90 nmol/mg prot/16 h	4.7 nmol/mg prot/16 h	N
^b ^, ^c 8/Neck01	1990/M	8 m	8 m	19 y	28	Acute encephalopathy	MMA B12‐U	c.828A > T p.Lys276Asn c.828A > T p.Lys276Asn	Yes	6.8 nmol/mg prot/16 h °°	16.9 nmol/mg prot/16 h	N
^c 9/Neck02	1984/M	2 y	14 y	29 y	31	Acute encephalopathy (2 y); Growth delay and CKD (14y)	MMA B12‐U	(c.31 + 1_c.32–1)_(c.733 + 1_c.734‐1)del (c.31 + 1_c.32–1)_(c.733 + 1_c.734‐1)del	NA	3.5 nmol/mg prot/16 h °°	20.1 nmol/mg prot/16 h	N
^c ^, ^d 10/Neck02	1979/F	NA	18 y	34 y	NA	Early CKD	MMA B12‐R	(c.31 + 1_c.32–1)_(c.733 + 1_c.734‐1)del (c.31 + 1_c.32–1)_(c.733 + 1_c.734‐1)del	NA	3.9 nmol/mg prot/16 h °°	40.3 nmol/mg prot/16 h	N
^b ^, ^c 11/Neck03	1992/M	14 m	2 y	NA	23	Acute encephalopathy	MMA B12‐U	c.593_596delCTGA p.Thr198Sfs*6 c.595_599delGAGTT p.E199IfsX14	No	3.2 nmol/mg prot/16 h °°	17.1 nmol/mg prot/16 h	N
^b ^, ^c 12/Neck04	1992/F	3 m	3 m	NA	26	Psychomotor delay and hypotonia	MMA B12‐U	c.433C > T p.Arg145* not found	No	4.7 nmol/mg prot/16 h °°	35.1 nmol/mg prot/16 h	N
^b ^, ^c 13/Neck05	2002/M	3 m	6 m	12 y	16	Weight stagnation, hypotonia, subacute encephalopathy	MMA B12‐U	c.64C > 7 p.Arg22* c.64C > 7 p.Arg22*	Yes	4.7 nmol/mg prot/16 h °°	10.6 nmol/mg prot/16 h	N
14/Lyo01	1985/F	NA	45 d	2 y	32	Weight stagnation	MMA B12‐R	c.586C > T p.Ala196* c.586C > T p.Ala196*	Yes	6.3 nmol/mg prot/16 h °°	10.3 nmol/mg prot/16 h	N
15/Lyo02	1985/F	4 m	5 m	NA	32	Acute encephalopathy	MMA B12‐U	c.586C > T p.Ala196* c.586C > T p.Ala196*	Yes	4.6 nmol/mg prot/16 h °°	9.7 nmol/mg prot/16 h	N
16/Lyo03	2002/F	2 d	2 d	2 d	16	Acute encephalopathy	MMA B12‐R	c.455delC p.Pro152Leufs9 c.455delC p.Pro152Leufs*9	Yes	NA	NA	NA
17/Lyo03	1994/F	2 d	4 d	2 y	22	Acute encephalopathy	MMA B12‐R	c.455delC p.Pro152Leufs9 c.455delC p.Pro152Leufs9	Yes	NA	NA	NA
18/Lyo02	1981/M	9 d	12 d	NA	20	Acute encephalopathy	MMA B12‐U	c.586C > T p.Ala196* c.586C > T p.Ala196*	Yes	NA	NA	NA
19/Lyo04	1995/F	8 m	9 m	12 y	22	Acute encephalopathy	MMA B12‐U	c.1162C > T p.Gln388* c.1162C > T p.Gln388*	Yes	19 nmol/mg prot/16 h °°	34.9 nmol/mg prot/16 h	N
20/Lyo05	1998/M	4 m	4 m	NA	19	Acute encephalopathy	MMA B12‐U	c.521 T > G p.Leu174* c.521 T > G p.Leu174*	Yes	6.9 nmol/mg prot/16 h °°	18.6 nmol/mg prot/16 h	N
^e 21/Mars01	2002/M	21 d	1 m	10 y	16	Acute encephalopathy	MMA B12‐U	c.433C > T p.Arg145* c.589A > G p.Met197Val	No	5.3 nmol/mg prot/16 h °°	10.1 nmol/mg prot/16 h	N
22/Debr01	2000/M	4 m	4 m	4 m	18	Acute encephalopathy	MMA B12‐R	c.586C > T p.Ala196* c.586C > T p.Ala196*	NA	NA	NA	NA
23/ Mont01	1998/F	1 m	9 m	22 y	22	Psychomotor delay; growth failure; subacute encephalopathy	MMA B12‐R	c.616_619delGCAT p.Ala206Thrfs11 c.433C > T p.Arg145	No	NA	NA	NA

Abbreviations: AdoCbl, adenosylcobalamin; B12‐U, vitamin B12‐unrensposive; B12‐R, vitamin B12‐responsive; d, day; Dia, diagnosis; FU, follow up; m, month; MMA, methylmalonic aciduria; MCM, methylmalonil‐CoA mutase enzyme; OHCbl, hydroxoCobalamin; y, year.

^{^a}

previously reported. ²⁰

^{^b}

previously reported. ¹⁴

^{^c}

previously reported. ¹⁵

^{^d}

previously reported. ²¹

^{^e}

included in the EIMD (European Registry and Network for Intoxication type Metabolic Diseases).