Table 1.
Newborn screening data for propionic acidemia cases in Wisconsin Amish.
| Case | Sex | Time of collection | Acylcarnitine profile |
Second tier testing |
Diagnosis confirmation | ||
|---|---|---|---|---|---|---|---|
| C3a |
C3/C2 |
MMA |
MCA |
||||
| nml < 5.00 μM (Cases 1 through 4) nml < 6.92 μM (Cases 5 through 8) |
nml < 0.20 | nml < 3.00 μM | nml < 1.00 μM | ||||
| PA cases: Identified by newborn screening | |||||||
| 1 | F | 41 h | 9.05 | 0.29 | 0.21 | 2.12 | Homozygous c.1606A>G |
| 2 | M | 48 h | 10.08 | 0.44 | 0.16 | 3.39 | Homozygous c.1606A>G |
| 3 | F | 36 h | 5.47 | 0.27 | 0.28 | 3.26 | Homozygous c.1606A>G |
| 4 | M | 31 h | 15.05 | 0.41 | 0.14 | 2.98 | Homozygous c.1606A>G |
| 5 | M | 24 h | 7.27 | 0.35 | NA | NA | Homozygous c.1606A>G |
| 6 | F | 96 h | 7.68 | 0.26 | NA | NA | Abnormal urine organic acids (presence of methylcitric acid) |
| 7b | F | 96 h | 4.28 | 0.16 | NA | NA | Abnormal urine organic acids (presence of methylcitric acid) |
| 5.92 | 0.21 | ||||||
| PA case: Missed by newborn screening | |||||||
| 8 | F | 38 h | 3.11 | 0.13 | NA | NA | Normal urine organic acids; Homozygous c.1606A>G |
a
From 2000 to 2010, normal C3 value was <6.92 μM (cases 5 through 8). From 2011 to current, normal C3 value is <5.00 μM (cases 1 through 4).
b
Specimen evaluated in duplicate due to a family history of Propionic acidemia.