Table 2.
Diagnostic tests
| Patient | Brain MRI | EEG | CSF neurotransmitter concentrations (nmol/L) | Plasma AADC activity (pmol/mL/min) | Dried blood spot 3-OMD (nmol/L) | ||||
|---|---|---|---|---|---|---|---|---|---|
| 5-HIAA | HVA | 3-OMD | L-Dopa | 5-HTP | |||||
| 1 | Normal | Normal | 91 | 65 | 2000 | ND | ND | 6 | ND |
| 2 | ND | ND | ND | ND | ND | ND | ND | 10 | 2060 |
| 3 | Non-specific brain atrophy | Normal | ND | ND | ND | ND | ND | < 5 | ND |
| 4 | Normal | Normal | 19 | 33 | ND | ND | 170 | < 5 | ND |
| 5 | Normal | Normal | ND | ND | ND | ND | ND | 2.5a | ND |
| 6 | Normal | Normal | 21 | 13 | 943 | ND | ND | ND | ND |
| 7 | Normal | Severe background depression | 93 | 60 | 2076 | 91 | 274 | 4 | ND |
| 8 | Normal | Intermittent slow activity, bilateral mid-posterior temporal and occipital | 6 | 38 | > 2500 | ND | ND | ND | ND |
| 9 | Normal | Mild-to-moderate diffuse encephalopathy | ND | ND | ND | ND | ND | ND | ND |
| 10 | Minor abnormalitiesb | Non-specific bioccipital abnormality | 7 | 20 | 1171 | ND | ND | ND | ND |
| 11 | Normal | Normal apart from slow background | ND | ND | ND | ND | ND | ND | ND |
| 12 | Normal | Normal | ND | ND | ND | ND | ND | 0.65 | ND |
| 13 | Normal | Normal | ND | ND | ND | ND | ND | ND | ND |
| 14 | Atrophy | Normal | ND | ND | ND | ND | ND | ND | ND |
| 15 | Atrophy | ND | ND | ND | ND | ND | ND | ND | ND |
| 16 | Normal | NAc | ND | ND | ND | ND | ND | ND | ND |
Results of diagnostic tests. Abnormal findings/values (outside of reference ranges provided for the assays used) are indicated in bold
5-HIAA 5-hydroxyindoleactetic acid, 5-HTP 5-hydroxytryptophan, AADC aromatic L-amino acid decarboxylase, CSF cerebrospinal fluid, EEG electroencephalogram, HVA homovanillic acid, MRI magnetic resonance imaging, NA not available, ND not done, OMD O-methyldopa
aMeasured indirectly by dopamine level
bTiny non-specific foci of signal abnormality, which might represent minor markers of metabolic derangement
cInformation not provided by the author