|
DISORDER
2004 data
|
# of babies with abnormal results reported to follow-up
|
# of babies confirmed with classical disease
|
# of babies with variant form of disease or carrier
|
PKU |
14 |
4 |
7 |
CH |
1,583 |
62 |
30 |
Galactosemia |
140 |
4 |
101 |
Sickle cell disease |
72 |
32 |
36 |
CF |
277 |
21 |
43 |
CAH |
459 |
8 |
2 |
MSUD |
1 |
1 |
0 |
Biotinidase |
195 |
1 |
20 |
SCAD |
|
3 |
0 |
MCAD |
|
3 |
2 |
LCAD |
|
0 |
0 |
VLAD |
|
0 |
0 |
Citrullinemia |
|
0 |
0 |
Arginosuccinic acidemia |
|
0 |
0 |
Glutaric acidemia |
|
0 |
0 |
MMA |
|
1 |
0 |
PPA |
|
0 |
0 |
Isovaleric acidemia |
|
0 |
0 |
HMG* |
|
0 |
0 |
3-MCC** |
|
2 |
0 |
All MS/MS detectable abnormals |
46 |
9 |
2 |
Amino acid disorders, not PKU or MSUD |
24 |
1 |
0 |
|
|
|
|
2004 totals |
2,811 |
152 |
243 |
*3-hydroxy-3-methylglutaryl CoA lyase deficiency
**3-methylcrotonyl CoA carboxylase deficiency
There were 2,878 sickle cell traits detected by the IEM laboratory in 2004.
|
Family Health Services
