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Condition report · Nutrition

Manganese Transporter Disorders

Rare inherited disorders in which manganese builds up in the body because of faulty manganese transporters, causing movement problems such as dystonia and, in some forms, liver disease and a high red blood cell count.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Hypermanganesemia with Dystonia

Autosomal recessive

Accumulation of manganese in the brain and other organs caused by variants in SLC30A10 or SLC39A14, leading to progressive dystonia and parkinsonism and, with SLC30A10, liver disease and polycythaemia.

What a diagnosis changes

Knowing allows early treatment with chelation therapy and iron supplementation, which can lower manganese levels and may improve or stabilise symptoms.

Genes analysed

Includes 2 related subtypes ↓
  • cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
  • hypermanganesemia with dystonia 2
MONDO:0000214MedGen 1632594

Other nutrition conditions

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