Hypomanganesaemia
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hypomanganesaemia. Congenital disorder of glycosylation type 2n, This is caused by SLC39A8 gene mutations. Fully referenced neurology checklist.
Genetic causes
- Congenital disorder of glycosylation type 2n
- This is caused by SLC39A8 gene mutations
Neurological features
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Systemic features
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Treatment
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References
- Katz N, Rader DJ. Manganese homeostasis: from rare single-gene disorders to complex phenotypes and diseases. J Clin Invest 2019; 129:5082-5085.
- Bowman AB, Kwakye GF, Herrero Hernández E, Aschner M. Role of manganese in neurodegenerative diseases. J Trace Elem Med Biol 2011; 25:191-203.
- Nebert DW, Liu Z. SLC39A8 gene encoding a metal ion transporter: discovery and bench to bedside. Hum Genomics 2019; 13(Suppl 1):51.
