Hypermanganesaemia with dystonia polycythemia and cirrhosis Authors Prem Chand Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan Zahra Ali Padhani Department of Centre of Excellence in Women and Child Health, Aga Khan University Hospital, Karachi, Pakistan Rozmeen Akbar Department of Biological and Biomedical Sciences, Aga Khan University Hospital, Karachi, Pakistan Fazal Arain Department of Biological and Biomedical Sciences, Aga Khan University Hospital, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.1776 Abstract 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 the case of a 2½-year-old baby girl (patient) with complaints of lower limb weakness and increased difficulty in walking for six months. Her laboratory test results showed deranged values with increased Mn levels in the body. The patient was put on six cycles of EDTA therapy, which showed an improvement in her condition. This case report is presented to create awareness about a rare genetic disorder with an effective treatment in some cases. Thus, more work and research is required to understand and develop better treatment options for this disease. Downloads Full Text Article Published 2022-09-15 How to Cite Prem Chand, Zahra Ali Padhani, Rozmeen Akbar, & Fazal Arain. (2022). Hypermanganesaemia with dystonia polycythemia and cirrhosis. Journal of the Pakistan Medical Association, 72(10), 2097–2100. https://doi.org/10.47391/JPMA.1776 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 72 No. 10 (2022): OCTOBER Section CASE REPORT