Defective PGM1 causes PGM1-CDG

Stable Identifier
Homo sapiens
Defective PGM1 causes CDG1t
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Phosphoglucomutases 1 and 2 (PGM1, 2) are involved in the cytosolic biosynthesis of nucleotide sugars needed for glycan biosynthesis, specifically, the isomerisation of glucose-6-phosphate (G6P) into glucose-1-phosphate (G1P). Defects in PGM1 can cause congenital disorder of glycosylation 1t (CDG1t, now known as PGM1-CDG; MIM:614921), a broad spectrum disorder characterised by under-glycosylated serum glycoproteins (Timal et al. 2012, Tegtmeyer et al. 2014). CDGs result in a wide variety of clinical features such as defects in nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency.

Literature References
PubMed ID Title Journal Year
22492991 Gene identification in the congenital disorders of glycosylation type I by whole-exome sequencing

Paprocka, J, Thiel, C, Morava, E, Rodenburg, RJ, Hoischen, A, Timal, S, van Spronsen, FJ, Veltman, J, Wevers, RA, Jamroz, E, Adamowicz, M, Lefeber, DJ, Huijben, K, Eidhof, I, Sykut-Cegielska, J, Lehle, L, Körner, C, Van den Heuvel, L, Gilissen, C

Hum. Mol. Genet. 2012
24499211 Multiple phenotypes in phosphoglucomutase 1 deficiency

Tegtmeyer, LC, Debus, V, Seyyedi, S, Rymen, D, Ficicioglu, C, He, P, Matalon, R, Petit, F, Laforêt, P, Huijben, K, Callewaert, N, Witten, A, Socha, P, Stojkovic, T, De Meirleir, L, Podskarbi, T, Schrapers, E, Shin, YS, Fingerhut, R, Aumaître, O, van Scherpenzeel, M, Timal, S, Vajro, P, Reunert, J, Lammens, M, DeClue, T, Vanderschaeghe, D, Losfeld, ME, Wada, Y, Czarnowska, E, Raymond, K, Ichikawa, M, van Spronsen, F, Sharma, V, Piraud, M, Marquardt, T, Rust, S, Veltman, J, Wevers, RA, Van Schaftingen, E, Jaeken, J, Matthijs, G, Sykut-Cegielska, J, Lefeber, DJ, Adamowicz, M, Stanley, CA, Ng, BG, Freeze, HH, Burda, P, Morava, E

N. Engl. J. Med. 2014
Name Identifier Synonyms
congenital disorder of glycosylation DOID:5212 carbohydrate-deficient glycoprotein syndrome
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