Table 2

Treatable metabolic disorders that may evoke tremor57–59

Metabolic disorderMovement disordersLaboratory testsGene
Wilson diseaseDystonia, parkinsonism, ataxia, chorea, tremorSerum ceruloplasmin, 24 hours urinary copper excretionATP7B
Niemann-Pick type CAtaxia, dystonia, rarely tremorOxysterols, chitotriosidaseNPC1, NPC2
Glutaric aciduria type 1Dystonia, parkinsonism, chorea, rarely tremorPlasma+urine organic acids, plasma acylcarnitinesGCDH
Ataxia with vitamin E deficiencyAtaxia, dystonia, rarely tremorPlasma vitamin E levelTTPA
Segawa disease (DRD)Dystonia, parkinsonism, tremorCSF dopamine levelsGCH1
Coenzyme Q10 deficiencyAtaxia, 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.