Appendix 3:

Clinical and laboratory findings in all patients evaluated for hematologic or neurologic abnormalities



Treated patients


Definite responders
Possible responders
Nonresponders
Unevaluable for response
Untreated patients
Clinical abnormality, no.  37   33   25   33   127  
    Hematologic, no. (%)   7 (19)   15 (45)   21 (84)   18 (55)   98 (77)  
    Neurologic, no. (%)   29 (78)   18 (55)   1 (4)   14 (42)   22 (17)  
    Both, no. (%)   1 (38)   0   3 (12)   1 (3)   7 (6)  
Cobalamin therapy, no.  37   33   25   33   NA  
    Oral, no. (%)   7 (19)   7 (21)   9 (36)   12 (36)   NA  
    Intramuscular, no. (%)   30 (81)   26 (79)   16 (64)   21 (64)   NA  
Lowest Cbl, no.  37   33   25   33   127  
    Less than 201 pg/mL, no. (%)   6 (16)   6 (18)   5 (20)   8 (24)   8 (6)  
    201-300 pg/mL, no. (%)   11 (30)   12 (36)   9 (36)   12 (36)   45 (36)  
    More than 300 pg/mL, no. (%)   20 (54)   15 (44)   11 (44)   13 (39)   74 (58)  
    More than 400 pg/mL, no. (%)   15 (41)   9 (26)   7 (28)   8 (24)   52 (41)  
Highest MMA, no.  5   31   25   29   112  
    Less than 251 nmol/L, no. (%)*  8 (23)   14 (45)   3 (12)   9 (31)   98 (88)  
    251-376 nmol/L, no. (%)   14 (40)   7 (23)   7 (28)   13 (45)   13 (11) 
    More than 376 nmol/L, no. (%)   13 (37)   10 (32)   15 (60)   7 (24)   1 (1) 
Highest HCys, no.  33   27   21   27   101  
    Less than 12.2 μmol/L, no. (%)   16 (49)   16 (59)   8 (38)   11 (41)   89 (88)  
    12.2-13.6 μmol/L, no. (%)   2 (6)   4 (15)   4 (19)   2 (7)   4 (4)  
    More than 13.6 μmol/L, no. (%)
 
15 (45)
 
7 (26)
 
9 (43)
 
14 (52)
 
8 (8)
 


Treated patients


Definite responders
Possible responders
Nonresponders
Unevaluable for response
Untreated patients
Clinical abnormality, no.  37   33   25   33   127  
    Hematologic, no. (%)   7 (19)   15 (45)   21 (84)   18 (55)   98 (77)  
    Neurologic, no. (%)   29 (78)   18 (55)   1 (4)   14 (42)   22 (17)  
    Both, no. (%)   1 (38)   0   3 (12)   1 (3)   7 (6)  
Cobalamin therapy, no.  37   33   25   33   NA  
    Oral, no. (%)   7 (19)   7 (21)   9 (36)   12 (36)   NA  
    Intramuscular, no. (%)   30 (81)   26 (79)   16 (64)   21 (64)   NA  
Lowest Cbl, no.  37   33   25   33   127  
    Less than 201 pg/mL, no. (%)   6 (16)   6 (18)   5 (20)   8 (24)   8 (6)  
    201-300 pg/mL, no. (%)   11 (30)   12 (36)   9 (36)   12 (36)   45 (36)  
    More than 300 pg/mL, no. (%)   20 (54)   15 (44)   11 (44)   13 (39)   74 (58)  
    More than 400 pg/mL, no. (%)   15 (41)   9 (26)   7 (28)   8 (24)   52 (41)  
Highest MMA, no.  5   31   25   29   112  
    Less than 251 nmol/L, no. (%)*  8 (23)   14 (45)   3 (12)   9 (31)   98 (88)  
    251-376 nmol/L, no. (%)   14 (40)   7 (23)   7 (28)   13 (45)   13 (11) 
    More than 376 nmol/L, no. (%)   13 (37)   10 (32)   15 (60)   7 (24)   1 (1) 
Highest HCys, no.  33   27   21   27   101  
    Less than 12.2 μmol/L, no. (%)   16 (49)   16 (59)   8 (38)   11 (41)   89 (88)  
    12.2-13.6 μmol/L, no. (%)   2 (6)   4 (15)   4 (19)   2 (7)   4 (4)  
    More than 13.6 μmol/L, no. (%)
 
15 (45)
 
7 (26)
 
9 (43)
 
14 (52)
 
8 (8)
 

Cbl indicates cobalamin; MMA, methylmalonic acid; HCys, homocysteine; NA, not applicable.

*

Includes patients with MMA values reported as more than 400 nmol/L.

Repeat values in 2 patients were normal.

Repeat value in this patient was normal.

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