Abstract
Congenital disorders of glycosylation form a rapidly growing group of inherited metabolic diseases. As glycosylation affects proteins all over the organism, a mutation in a single gene leads to a multisystemic disorder. We describe a patient with TMEM165-CDG with facial dysmorphism, nephrotic syndrome, cardiac defects, enlarged cerebral ventricles, feeding problems, and neurological involvement. Having confirmed the diagnosis via prenatal diagnostics, we were able to observe the glycosylation right from birth, finding a pathological pattern already on the first day of life. Within the next few weeks, hypoglycosylation progressed to less sialylated and then also to hypogalactosylated isoforms. On the whole, there has not been much published evidence concerning postnatal glycosylation and its adaptational process. This is the first paper reporting changes in glycosylation patterns over the first postnatal weeks in TMEM165-CDG.
Competing interests: None declared
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Acknowledgement
We dedicate this paper to our friend and colleague Christian Körner. He was one of the founders of CDG research and will be deeply missed by colleagues and patients.
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Communicated by: Jaak Jaeken
Take-Home Message
Glycosylation patterns undergo an adaptational process over the first postnatal weeks that can be shown by transferrin analysis. Postnatal screening for CDG has pitfalls due to a correcting factor likely derived from the mother.
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All authors declare no conflict of interests.
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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000. Informed consent was obtained from the parents.
Details of the Contributions of Individual Authors
S. Schulte Althoff: acquisition and analysis of data, drafting and revision of the manuscript
M. Grüneberg, J. Reunert, J. H. Park, S. Rust, Y. Wada: acquisition and analysis of data, revision of the manuscript
C. Mühlhausen, R. Santer: medical treatment of the patient, acquisition and analysis of data, revision of the manuscript
T. Marquardt: supervision, data acquisition and interpretation, revision of the manuscript
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Schulte Althoff, S. et al. (2015). TMEM165 Deficiency: Postnatal Changes in Glycosylation. In: Morava, E., Baumgartner, M., Patterson, M., Rahman, S., Zschocke, J., Peters, V. (eds) JIMD Reports, Volume 26. JIMD Reports, vol 26. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2015_455
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DOI: https://doi.org/10.1007/8904_2015_455
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