Figure 1.
Figure 2.
Figure 3.
Figure 4.
Figure 5.
Figure 6.
Values of the metabolites of the child with SSADH_ Pathological values are shown in bold
| Metabolite | Biological fluid/analysis | Value | Reference value |
| 4-hydroxy-butyric | Urine/Organic acids | 688.7 mmol/mol creatinine | n.d.1 |
| 3,4- dihydroxybutyric | Urine/Organic acids | 180 mmol/mol creatinine | n.d.1 |
| 2,4-dihydroxybutyric | Urine/Organic acids | 30 mmol/mol creatinine | n.d.1 |
| 3-hydroxy-propionic | Urine/Organic acids | 149.4 mmol/mol creatinine | 1.0–36.0 mmol/mol creatinine |
| 2-hydroxy-glutaric2 | Urine/Organic acids | 76.8 mmol/mol creatinine | 0.0–15.0 mmol/mol creatinine |
| glutaric2 | Urine/Organic acids | 36.2 mmol/mol creatinine | 0.0–5.3 mmol/mol creatinine |
| glycine | Plasma/Aminoacids | 289.0 μmol/L | 107.0–343 μmol/L |
| 5-hydroxy-indoloacetic | CSF/ Biogenic amines | 184.0 nmol/L | 170.0–490.0 nmol/L |
| homovanillic | CSF/ Biogenic amines | 630.0 nmol/L | 344.0–906.0 nmol/L |
| 3-ortho-methyldopa | CSF/ Biogenic amines | 20.0 nmol/L | 4.0–50.0 nmol/L |
| 5-hydroxy-tryptophan | CSF/ Biogenic amines | 7.0 nmol/L | 1.6–15.0 nmol/L |
| neopterin | CSF/ Pterins | 31.0 | 8.0–43.0 nmol/L |
| biopterin | CSF/ Pterins | 41.0 | 8.0–54.0 nmol/L |