Indian J Nephrol
Department of Neuroimaging and Interventional Radiology, Manipal Hospital Whitefield, Bangalore, Karnataka, India.
Published: October 2020
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8023027 | PMC |
http://dx.doi.org/10.4103/ijn.IJN_291_19 | DOI Listing |
J Clin Med
July 2024
Center for Genetics and Inherited Diseases, Taibah University, Madinah 42353, Saudi Arabia.
: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and hepatic dysfunction, which can progress to cirrhosis in some patients. : In this study, a consanguineous Saudi family with two affected individuals exhibiting symptoms of severe motor impairment, spastic paraparesis, postural instability, and dystonia was studied.
View Article and Find Full Text PDFFront Pediatr
January 2024
Department of Pediatric Hematology and Oncology, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due to SLC30A10 bi-allelic mutations and characterized by hypermanganesemia, congenital erythrocytosis and neurodegeneration, also known as hypermanganesemia with dystonia 1 (HMNDYT1). The patient was treated with iron supplementation and chelation therapy with CaNa2EDTA, resulting in a significative reduction of blood manganese levels and erythrocytosis indexes.
View Article and Find Full Text PDFFront Pediatr
January 2023
Department of Pediatrics, Peking University First Hospital, Beijing, China.
Background: Manganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (, , and ) have been discovered to cause inborn errors in Mn metabolism in humans. As very rare diseases, the clinical features require further clarification.
View Article and Find Full Text PDFJ Pak Med Assoc
October 2022
Department of Biological and biomedical Sciences, Aga Khan University Hospital, Karachi, Pakistan.
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.
View Article and Find Full Text PDFChildren (Basel)
September 2022
Department of Pediatrics, College of Medicine, King Saud University, Riyadh 11461, Saudi Arabia.
Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic neuroimaging findings such as bilateral and symmetrically increased T1 and decreased T2/fluid-attenuated inversion recovery signal intensity in the basal ganglia. This condition is secondary to a mutation in the gene.
Objective: To present a series of three cases of hypermanganesemia with dystonia type 2, which was genetically confirmed secondary to a mutation in the gene, and to describe the treatment and clinical course in these cases.
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