TMEM165 Deficiency: Postnatal Changes in Glycosylation
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TMEM165 Deficiency: Postnatal Changes in Glycosylation. / Althoff, S Schulte; Grüneberg, M; Reunert, J; Park, J H; Rust, S; Mühlhausen, C; Wada, Y; Santer, R; Marquardt, T.
JIMD Reports. Vol. 26 1. ed. Springer, 2016. p. 21-29 (JIMD Reports; Vol. 26).Research output: SCORING: Contribution to book/anthology › SCORING: Contribution to collected editions/anthologies › Research › peer-review
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TY - CHAP
T1 - TMEM165 Deficiency: Postnatal Changes in Glycosylation
AU - Althoff, S Schulte
AU - Grüneberg, M
AU - Reunert, J
AU - Park, J H
AU - Rust, S
AU - Mühlhausen, C
AU - Wada, Y
AU - Santer, R
AU - Marquardt, T
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
U2 - 10.1007/8904_2015_455
DO - 10.1007/8904_2015_455
M3 - SCORING: Contribution to collected editions/anthologies
C2 - 26238249
SN - 978-3-662-49832-3
VL - 26
T3 - JIMD Reports
SP - 21
EP - 29
BT - JIMD Reports
PB - Springer
ER -