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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]
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]
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]
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.
MPI-CDG differs from most other described glycosylation disorders due to its lack of central nervous system involvement, and because it has treatment options besides supportive care. Treatment with oral mannose has been shown to improve most symptoms of the disease. [2] If left untreated, MPI-CDG can be fatal. [1] MPI-CDG was previously known ...
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.
Bahasa Indonesia; Italiano; 日本語 ... Congenital disorder of glycosylation also known as CDG Syndrome; Costume Designers Guild ... Wikipedia® is a registered ...