Table 1.
SLC39A14 gene disorder | SLC30A10 gene disorder | SLC39A8 gene disorder | |
---|---|---|---|
Inheritance | Autosomal recessive | Autosomal recessive | Autosomal recessive |
Serum manganese levels | Elevated | Elevated | Low |
Cognition | Relatively spared | Relatively spared | Developmental delay, intellectual disability |
Extrapyramidal symptoms | Parkinsonism, dystonia | Parkinsonism, dystonia | Dystonia |
Seizures | None | None | Yes |
Systemic symptoms | None | Liver disease, polycythemia | Skeletal dysplasia, deafness, liver disease |
Treatment | Chelation | Chelation, iron supplementation | Oral galactose |