Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis (HMDPC) due to mutation in the SLC30A10 gene.
Manganese (Mn) is an essential element for metabolic pathways but it can be toxic when present in excessive amounts in the body. Hypermanganesemia along with dystonia, polycythemia, characteristic MRI brain findings in the basal ganglia, and chronic liver disease are the hallmarks of an inherited Mn transporter defect due to mutations in the SLC30A10 gene. We are reporting three siblings who presented with features of dystonia, polycythemia, MRI brain showing basal ganglia hyperintensity on T1 weighted images and chronic liver disease. Blood Mn levels were markedly elevated in the affected patients. Mutation analysis of DNA samples of the affected children confirmed a homozygous missense mutation in SLC30A10. Chelation therapy with intravenous disodium calcium edetate was started in two siblings and led to a marked decrease in whole blood Mn. Oral Penicillamine was later added to the therapy which further improved blood Mn levels. This is a rare disorder and is one of the potentially treatable inherited metal storage disorders. It can be fatal if left untreated. Penicillamine may be an effective alternative to disodium calcium edetate.
Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan.
Khairunnisa
K
Mukhtiar
Department of Paediatrics and Child Health, Aga Khan University, Karachi, Pakistan. Electronic address: shahnaz.ibrahim@aku.edu.
Shahnaz
S
Ibrahim
Institute of Child Health, University College London, United Kingdom.
Karin
K
Tuschl
Institute of Child Health, University College London, United Kingdom.
Phillipa
P
Mills
D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D027682:Cation Transport Proteins / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008659:Metabolic Diseases / Q000000981:diagnostic imaging / Q000235:genetics* / Q000628:therapy; D009154:Mutation; D010375:Pedigree; D035583:Rare Diseases / Q000000981:diagnostic imaging / Q000235:genetics / Q000628:therapy; D035781:Siblings; D055815:Young Adult; D000075703:Zinc Transporter 8
D027682:Cation Transport Proteins; C492522:SLC30A8 protein, human; D000075703:Zinc Transporter 8
Inherited hypermanganesemia; Polycythemia; SLC30A10 mutation