Table 2.
Metabolic disorder | Movement disorders | Laboratory tests | Gene |
Wilson disease | Dystonia, parkinsonism, ataxia, chorea, tremor | Serum ceruloplasmin, 24 hours urinary copper excretion | ATP7B |
Niemann-Pick type C | Ataxia, dystonia, rarely tremor | Oxysterols, chitotriosidase | NPC1, NPC2 |
Glutaric aciduria type 1 | Dystonia, parkinsonism, chorea, rarely tremor | Plasma+urine organic acids, plasma acylcarnitines | GCDH |
Ataxia with vitamin E deficiency | Ataxia, dystonia, rarely tremor | Plasma vitamin E level | TTPA |
Segawa disease (DRD) | Dystonia, parkinsonism, tremor | CSF dopamine levels | GCH1 |
Coenzyme Q10 deficiency | Ataxia, dystonia, tremor, spasticity | Serum lactate, biochemical activities of respiratory chain complexes in skin or muscle, muscle CoQ10 level | Multiple genes |
CSF, cerebrospinal fluid; DRD, dopa-responsive dystonia.