Congenital Disorders Of Glycosylation

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Retrieved

2022-04-26

Source

Gard

Trials

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Genes

PMM2, SRD5A3, MPI, SLC35A2, MOGS, DPM1, DOLK, MPDU1, SLC35A1, FCSK, ALG1, MAGT1, SRD5A3-AS1, TMEM165, PGM1, COG8, ALG6, COG6, ALG3, ALG9, PGM3, ALG8, DPAGT1, MAN1B1, COG7, COG5, APOC3, MGAT2, ALG12, DPM3, SLC35C1, SERPINA1, LEMD3, ALPI, ALPP, ATP6V0A2, ALG11, SLC39A8, STT3B, MAN1A1, GOLPH3, CD47, STT3A, IAPP, DHDDS, RFT1, ALG2, PGAP3, NUS1P3, COG2, GFM1, SLC35A3, POFUT2, CCDC115, NUS1, PGAP1, ALG13, CSGALNACT1, TRAPPC11, GRIN3A, AGA, RXYLT1, IGF1, GPI, B4GALT1, FUT8, FXN, F11, SLC26A3, DLD, DDOST, DCN, DAG1, SERPINA6, BGN, BCHE, ATP6AP1, SERPINC1, APRT, APOB, HP, IGFBP5, MGAM, ITGB2, ST3GAL5, DPM2, TUSC3, AKR1B1, TF, SSR4, SSR3, ST3GAL3, SI, RNASE4, RAB1A, PYCR1, ATXN3, MFAP1, LAMP2, LAMP1, LAD1, PGR-AS1

Drugs

(2S,4R)-1-(2-(3-acetyl-5-(2-methylpyrimidine-5-yl)-1H-indazol-1-yl)acetyl)-N-(6-bromopyridine-2-yl)-4-fluoropyrrolidine-2-carboxamide, 15-amino-acid macrocyclic peptide acylated with a polyethyleneglycol palmitoylated linker, 4-{(2S,4S)-4-ethoxy-1-[(5-methoxy-7-methyl-1H-indol-4-yl)methyl]piperidin-2-yl}benzoic acid-hydrogen chloride(1/1), Coversin, Eculizumab ( SOLIRIS ), Fc- and CDR-modified humanised monoclonal antibody against C5 ( ULTOMIRIS ), Liposomal mannose-1-phosphate, Myristoylated-peptidyl-recombinant Human CD59, N-acetyl-D-mannosamine monohydrate, PEGylated peptide inhibitor of complement C3, Palovarotene, S3,S13-cyclo(D-tyrolsyl-L-isoleucyl-L-cysteinyl-L-valyl-1-methyl-L-tryptophyl-L-glutaminyl-L-aspartyl-L-tryptophyl-N-methyl-L-glycyl-L-alanyl-L-histidyl-L-arginyl-L-cysteinyl-N-methyl-L-isoleucinamide), Sialic acid

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Congenital disorders of glycosylation (CDG) are a group of inherited metabolic disorders that affect a process called glycosylation. Glycosylation is the complex process by which all human cells build long sugar chains that are attached to proteins, which are called glycoproteins. There are many steps involved in this process, and each step is triggered by a type of protein called an enzyme. Individuals with a CDG are missing one of the enzymes that is required for glycosylation. The type of CDG that a person has depends on which enzyme is missing. Currently, there are 19 identified types of CDG. CDG type IA is the most common form. The symptoms of CDG vary widely among affected individuals. Some people have severe developmental delay, failure to thrive, and multiple organ problems, while others have diarrhea, low blood sugar (hypoglycemia), liver problems, and normal developmental potential.