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Article

Hypermanganesaemia with dystonia polycythemia and cirrhosis.

JPMA. The Journal of the Pakistan Medical Association - 1 Oct 2022

Chand Prem, Padhani Zahra Ali, Akbar Rozmeen, Arain Fazal

Abstract excerpt

Hypermanganesaemia with dystonia, polycythemia, and cirrhosis (HMDPC) is a rare genetic and autosomal recessive disorder that occurs due to mutation of the SLC3A10 gene, which encodes the manganese (Mn) transporter in the body; as a result, Mn accumulates in the brain, liver and muscles. This accumulation leads to symptoms of generalized dystonia, polycythemia, and hypermanganesaemia. In this report, we present...

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Identifiers

PMID: 36661006
DOI: 10.47391/JPMA.1776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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