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Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder
- Source :
- Journal of Inherited Metabolic Disease. 31:151-163
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- We report a new constellation of clinical features consisting of hypermanganesaemia, liver cirrhosis, an extrapyramidal motor disorder and polycythaemia in a 12 year-old girl born to consanguineous parents. Blood manganese levels were >3000 nmol/L (normal range
- Subjects :
- Male
Heterozygote
medicine.medical_specialty
Polycythaemia
Candidate gene
Cirrhosis
Adolescent
Biopsy
Iron
DNA Mutational Analysis
Calcium-Transporting ATPases
Neurological disorder
Biology
Basal Ganglia
Sarcoplasmic Reticulum Calcium-Transporting ATPases
Central nervous system disease
Metabolic Diseases
Internal medicine
Genetics
medicine
Humans
Genetic Predisposition to Disease
Chelation therapy
Child
Genetics (clinical)
Chelating Agents
Dystonia
Manganese
Metabolic disorder
medicine.disease
Magnetic Resonance Imaging
Pedigree
Phenotype
Treatment Outcome
Endocrinology
Liver
Dietary Supplements
Female
Biomarkers
Metabolism, Inborn Errors
Subjects
Details
- ISSN :
- 15732665 and 01418955
- Volume :
- 31
- Database :
- OpenAIRE
- Journal :
- Journal of Inherited Metabolic Disease
- Accession number :
- edsair.doi.dedup.....ca8bf7e3fc6eb0e8bddc64ad9cd38531
- Full Text :
- https://doi.org/10.1007/s10545-008-0813-1