Table 1.
New mothers diagnosed with inborn errors of metabolism via positive NBS in their newborn. PCD, primary systemic carnitine deficiency; 3-MCCD, 3-Methylcrotonyl-CoA carboxylase deficiency; y, years; NBS, newborn screening.
| Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|
| Diagnosis | PCD | PCD | 3-MCCD |
| Age(y) | 30 | 36 | 42 |
| Opportunity of diagnosis |
Low C0 of NBS | Low C0 of NBS | Low C0 and high C5-OH of NBS |
| Clinical presentation | No symptoms | No symptoms | No symptoms |
| Examination | Free carnitine 8.6 μmol/L in blood |
Free carnitine 5.9 μmol/L in blood |
Free carnitine 4.4 μmol/L in blood 3-Methylcrotonylglycine and 3-Hydroxyisovaleric acid Elevation in urine |
| Gene analysis |
SLC22A5 c.1063T > C/ c.1266A > G |
SLC22A5 c.865C > T/ c.1400C > G |
Not implemented |
| Diagnosis of newborn |
Secondary to low maternal plasma carnitine levels |
Secondary to low maternal plasma carnitine levels |
Secondary to low maternal plasma carnitine levels |
| Treatments | Oral carnitine | Oral carnitine | Oral carnitine |
| Symptoms after treatment | Improvement in headache and fatigue |
No change | Improvement in headache and fatigue |