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In 1998, Niehues described a new CDG syndrome, MPI-CDG, which is caused by mutations in the enzyme metabolically upstream of PMM2, phosphomannose isomerase (PMI). [25] A functional therapy for MPI-CDG, alimentary mannose was also described. [25] The characterization of new defects took increased and several new Type I and Type II defects were ...
PMM2 deficiency or PMM2-CDG, previously CDG-Ia, is a very rare genetic disorder caused by mutations in PMM2. It is an autosomal recessive disease that is the most common type of congenital disorder of glycosylation or CDG. [2] PMM2-CDG is the most common of a growing family of more than 130 extremely rare inherited metabolic disorders. [3]
MPI-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in MPI. The clinical symptoms in MPI-CDG are caused by deficient activity of the enzyme mannose phosphate isomerase .
SLC35A1-CDG is a rare inherited disorder that mainly affects the vascular systems of the body. [2] It forms part of a large group of disorders called congenital disorders of glycosylation . [ 3 ] [ 4 ] It is caused by mutations in the SLC35A1 gene, located in the sixth chromosome.
SRD5A3-CDG (also known as CDG syndrome type Iq, CDG-Iq, CDG1Q or Congenital disorder of glycosylation type 1q) is a rare, non X-linked congenital disorder of glycosylation (CDG) [1] due to a mutation in the steroid 5 alpha reductase type 3 gene. It is one of over 150 documented types of Congenital disorders of Glycosylation. [2]
CDG syndrome type It (CDG1T, PGM1-CDG, phosphoglucomutase 1 deficiency, PGM1 deficiency) formerly: GSD type XIV (GSD 14) Wide range of manifestations and severity. Commonly cleft lip and bifid uvula, hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance. DNA Test: mutation on PGM1.
ALG1-CDG is an autosomal recessive congenital disorder of glycosylation caused by biallelic pathogenic variants in ALG1. The first cases of ALG1-CDG were described in 2004, and the causative gene was identified at the same time. This disorder was originally designated CDG-IK, under earlier nomenclature for congenital disorders of glycosylation. [1]
PGM1 deficiency is known as PGM1-CDG or CDG syndrome type 1t (CDG1T), formerly known as glycogen storage disease type 14 (GSD XIV). [ 15 ] [ 16 ] The disease is both a glycogenosis and a congenital disorder of glycosylation.