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A congenital disorder of glycosylation (previously called carbohydrate-deficient glycoprotein syndrome) is one of several rare inborn errors of metabolism in which glycosylation of a variety of tissue proteins and/or lipids is deficient or defective. Congenital disorders of glycosylation are sometimes known as CDG syndromes.
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]
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.
Chronic granulomatous disease (CGD), also known as Bridges–Good syndrome, chronic granulomatous disorder, and Quie syndrome, [1] is a diverse group of hereditary diseases in which certain cells of the immune system have difficulty forming the reactive oxygen compounds (most importantly the superoxide radical due to defective phagocyte NADPH oxidase) used to kill certain ingested pathogens. [2]
Like many other medications, Lexapro is also used off-label (i.e., for non-FDA-approved uses) to treat other conditions, includingsocial anxiety disorder, panic disorder, obsessive-compulsive ...
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 ...
SRD5A3-CDG is an ultra-rare disorder with a frequency of less than 1 in 10 million. [12] As of 2018, there were at least 38 reported cases of SRD5A3-CDG from 26 different families. While the exact number of patients worldwide is unknown, most recorded cases so far have been reported from Afghanistan, the Czech Republic, Iran, Pakistan, Poland ...