About TMEM165-CDG: is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. The disease is caused by mutations in the gene TMEM165 (4q12) (continue reading here).
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What is Manganese?
Manganese is an ion essential for bone formation and your body’s defense systems against unstable compounds (free radicals) produced inside mitocondrias (one of the compartments inside your cells, responsible for producing energy). It is found mostly in the bones but also in the liver, kidneys and brain.
How can Manganese supplementation help people living with SLC39A8-CDG?
One of the ions transported by the SLC39A8 protein is manganese. Supplementation with manganese sulphate in two people living with SLC39A8-CDG resulted in correction of transferrin glycosylation and clinical improvement by near normalization of EEG patterns and seizures improvement. It is important to note that high levels of manganese can be toxic, so this therapeutic approach should be closely monitored.
How can Manganese supplementation help people living with TMEM165-CDG?
The TMEM165 protein transports manganese inside the Golgi apparatus.2 Manganese supplementation was tested in cells (in the lab) and was able to recover glycosylation. It is important to note that different defects in the TMEM165 gene (i.e. the mutation or variant you have) can influence the response to manganese supplementation.
Publications in CDG are constantly growing. We have selected articles of special interest for you, see below. Not all are open access, thus if you wish to access the full information, please contact us at https://worldcdg.org/contact
