Table 3. Vitamin supplements.
| Disorder | Cause (gene) | Movement disorder | Other clinical features2 | Treatment | Outcome |
|---|---|---|---|---|---|
| Abetalipoproteinemia (Bassen-Kornzweig) | Microsomal triglyceride transfer protein (MTTF) | Ataxia, chorea, dystonia, parkinsonism | Retinitis pigmentosa, dementia, seizures, acanthocytes, fat malabsorption | Dietary fat restriction, vitamin E & A | Early treatment prevents symptoms26 |
| Aromatic amino acid decarboxylase deficiency | Aromatic amino acid decarboxylase (AADC) | Dystonia | Developmental delay, hypotonia, oculogyric crises | Dopamine agonists, monoamine oxidase inhibitors, vitamin B6 | Partial reversal of symptoms in some cases39,40 |
| Ataxia with vitamin E deficiency | Alpha tocopheral transfer protein (TTPA) | Ataxia, dystonia | Neuropathy, visual impairment | Vitamin E | Early treatment prevents symptoms38 |
| Biotin-thiamine responsive basal ganglia disease | Thiamine transporter (SLC19A3) | Episodic or progressive dystonia, parkinsonism, ataxia | Encephalopathy, seizures (often triggered by metabolic decompensation) | Biotin plus thiamine, avoid or treat triggers | Early treatment prevents or reverses symptoms33 |
| Biotinidase deficiency | Biotinidase (BTD) | Ataxia, spastic paresis, dystonia | Developmental delay, seizures, visual and auditory impairment, skin changes | Biotin | Early treatment prevents symptoms32 |
| Cerebral folate deficiency | Folate transport (FLR1, SLC46A1) | Ataxia, dystonia, spasticity | Developmental delay, seizures, psychiatric impairment | Folinic acid | Early treatment prevents symptoms87 |
| Cobalamin deficiency | Cobalamin deficiency (multiple genes) | Ataxia, dystonia, spasticity | Developmental delay, encephalopathy, seizures (often triggered by metabolic decompensation) | Cobalamin derivatives | Early treatment mitigates symptoms37 |
| CoEnzyme Q10 deficiency | Coenzyme Q10 deficiency (multiple genes) | Ataxia, dystonia, tremor, spasticity | Multiple distinct phenotypes | Coenzyme Q10 | Treatment prevents or reverses symptoms34 |
| Homocystinuria | Cystathione beta synthase (CBS) | Dystonia, parkinsonism | Developmental delay, myopia, ectopic lens, psychiatric features | Vitamin B6, dietary restriction of methionine, betaine | Early treatment prevents most symptoms22 |
| Pyruvate dehydrogenase complex deficiency | Pyruvate dehydrogenase complex (multiple genes) | Chronic or paroxysmal dystonia, ataxia | Developmental delay, encephalopathy, seizures | Thiamine, ketogenic diet, triheptanoin | Treatment mitigates symptoms30 |
Many of these disorders have variable or mixed phenotypes. The most common or most dominant movement disorder is shown in boldface type. The term metabolic decompensation refers to a state in which the body's consumption of a metabolite (e.g, energy.) exceeds supply.