Table 1 Biochemical parameters at diagnosis and mutation analysis in patients 1 and 2
From: Primary carnitine deficiency – diagnosis after heart transplantation: better late than never!
Patient 1 | Patient 2 | Reference range | |
|---|---|---|---|
Newborn screening | |||
Free carnitine in dried blood | 1st screening: 3 μmol/l 2nd screening: 2 μmol/l | 1st screening: 3 μmol/l 2nd screening: 1 μmol/l | 6–65 μmol/l |
Confirmation diagnostics | At age 3 weeks | ||
Free carnitine in serum | 12 μmol/l | 12–46 μmol/l | |
At age 7 years | At age 1 month | ||
Free carnitine in dried blood | 1.3 μmol/l | 0.93 μmol/l | 15–60 μmol/l |
Free carnitine in serum | n.a. | 3.76 μmol/l | 15–68 μmol/l |
Free carnitine in urine (mmol/mol creatinine) | 39.7 mmol/mol creatinine | 22.2 mmol/mol creatinine | < 41.5 mmol/mol creatinine |
renal carnitine reabsorption | n.a. | 72% | > 98% |
SLC22A5 gene mutation | homozygous for c.1319C > T; p.Thr440Met | homozygous for c.1319C > T; p.Thr440Met | |