Table 2

Treatable metabolic disorders that may evoke tremor57–59

Metabolic disorderMovement disordersLaboratory testsGene
Wilson disease Dystonia, parkinsonism, ataxia, chorea, tremorSerum ceruloplasmin, 24 hours urinary copper excretionATP7B
Niemann-Pick type C Ataxia, dystonia, rarely tremor Oxysterols, chitotriosidaseNPC1, NPC2
Glutaric aciduria type 1 Dystonia, parkinsonism, chorea, rarely tremor Plasma+urine organic acids, plasma acylcarnitinesGCDH
Ataxia with vitamin E deficiency Ataxia, dystonia, rarely tremor Plasma vitamin E levelTTPA
Segawa disease (DRD) Dystonia, parkinsonism, tremorCSF dopamine levelsGCH1
Coenzyme Q10 deficiency Ataxia, dystonia, tremor, spasticitySerum lactate, biochemical activities of respiratory chain complexes in skin or muscle, muscle CoQ10 levelMultiple genes
  • CSF, cerebrospinal fluid; DRD, dopa-responsive dystonia.