Table 1.
Serum metabolite changes identified post‐nitisinone therapy at 12 and 24 months in patients with AKU using an in‐house AMRT database
| Compound | Log2 FC | P value | Abundance | Metabolic process/pathway affected | ||
|---|---|---|---|---|---|---|
| 12‐Months | 24‐Months | Down | Up | |||
| Glycocholate | 12.7 | 12.7 | <.001 | √ | Bile acid | |
| Succinic acid | 11.4 | 11.4 | <.001 | √ | Citric acid cycle | |
| α‐Ketoglutaric acid | 10.0 | 10.0 | <.001 | √ | Citric acid cycle | |
| Trans‐4‐hydroxyproline | 15.5 | 15.5 | <.001 | √ | Collagen | |
| Homoserine | 12.5 | 12.5 | <.001 | √ | Methionine/cysteine | |
| Mevalolactone | 10.7 | 10.7 | <.001 | √ | Steroid | |
| l‐Allothreonine | 11.8 | 11.8 | .02 | √ | Threonine | |
| Trigonelline | 12.8 | 12.8 | <.001 | √ | Tryptophan | |
| 4‐Quinolinecarboxylic acid | 8.3 | 8.3 | <.001 | √ | Tryptophan | |
| Indole‐3‐lactate | 2.1 | 2.3 | <.001 | √ | Tryptophan | |
| 4‐Hydroxyphenylacetate | 4.2 | 5.4 | <.001 | √ | Tyrosine | |
| Benzaldehyde | 6.9 | 6.9 | <.001 | √ | Tyrosine | |
| Homogentisate | 4.0 | 5.0 | <.001 | √ | Tyrosine | |
| 4‐Hydroxybenzaldehyde | 14.4 | 14.4 | <.001 | √ | Tyrosine | |
| l‐N‐Acetyl‐tyrosine | 15.5 | 15.2 | <.001 | √ | Tyrosine | |
| γ‐l‐Glutamyl‐l‐tyrosine | 3.2 | 3.0 | <.001 | √ | Tyrosine | |
| 3‐(4‐Hydroxyphenyl)lactate | 6.4 | 6.4 | <.001 | √ | Tyrosine | |
| l‐Tyrosine | 2.7 | 2.7 | <.001 | √ | Tyrosine | |
| Mandelic acid | 12.6 | 12.0 | <.001 | √ | Tyrosine | |
| Inosine | 10.8 | 10.8 | <.001 | √ | Purine | |
| Uridine | 2.1 | 1.5 | <.001 | √ | Pyrimidine | |
Note: Abundance expressed as log2 FC compared to baseline (pre‐nitisinone treatment). Log2 FC included if >2 at 12‐ and or 24‐months.
Abbreviation: AMRT, accurate mass retention time.