Hypermanganesemia with dystonia 1 (HMNDYT1) is characterized by the following: A
movement disorder resulting from manganese accumulation in the basal ganglia. Whole …

CLINICAL CHARACTERISTICS: The disorder dystonia/parkinsonism, hypermanganesemia,
polycythemia, and chronic liver disease is characterized by the following: A movement …

Background Hypermanganesemia with dystonia 1 and 2 (HMNDYT1 and 2) are rare,
inherited disorders of manganese transport. Objectives We aimed to describe clinical …

Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive
neurodegenerative disorder characterized by the loss of previously acquired milestones …

Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare 13
genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 14 …

Exogenous manganese (Mn) intoxication leads only to neurotoxicity, whereas inherited
hypermanganesemia additionally can cause cirrhosis and polycythemia. We report two …

Manganese is an essential trace metal that is a constituent of metalloenzymes and is
required as an enzyme activator. Blood manganese levels are under tight homeostatic …

Manganese (Mn) toxicity causes an extrapyramidal, parkinsonian-type movement disorder
with characteristic magnetic resonance images of Mn accumulation in the basal ganglia …

Background: The first gene causing early‐onset generalized dystonia with brain manganese
accumulation has recently been identified. Mutations in the SLC30A10 gene, encoding a …

Biallelic mutations in the SLC30A10 gene cause an inborn error of Mn metabolism
characterized by hypermanganesemia, polycythemia, early‐onset dystonia, and liver …