Table 1 Relevant amino acid results measured by tandem mass spectrometry in dried blood spots newborn screening samples of both patients
From: Citrin deficiency mimicking mitochondrial depletion syndrome
Parameter | Patient 1 | Patient 2 | Reference range (μmol/L) |
|---|---|---|---|
citrulline (μmol/L) | 49 | 51 | 6–91.63 |
tyrosine (μmol/L) | 49 | 32 | < 350 |
phenylalanine (μmol/L) | 38 | 32 | < 123 |
alanine/citrulline ratio | 3.18 | 3.86 | n.a. |