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. 2020 May 26;91(8):822–830. doi: 10.1136/jnnp-2019-322676

Table 2.

Treatable metabolic disorders that may evoke tremor57–59

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.