SLC35A2 -congenital disorder of glycosylation (SLC35A2 -CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms …

SLC35A2-congenital disorder of glycosylation (SLC35A2-CDG), formerly known as CDG-IIm, is a rare inherited condition that affects several body systems. To-date, almost 70 cases of SLC35A2-CDG have been reported in the medical literature.

Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CD …

SLC35A2-CDG is an X-linked congenital disorder of glycosylation (CDG), caused by the deficiency of the Golgi-localized UGT. It results in the reduction of galactosylation needed for N-glycan remodeling and O-glycan synthesis in the Golgi, and thus affects the synthesis of glycoproteins, glyco (sphingo)lipids and proteoglycans [1].

Individuals with SLC35A2-CDG typically develop signs and symptoms of the condition during infancy. Affected infants may have seizures (such as hypsarrhythmia), low muscle tone, global developmental delay, and a failure to gain weight and grow at the expected rate (failure to thrive).

2005年8月15日 · SLC35A2-CDG is an X-linked disorder leading to severe early-onset encephalopathy [Kodera et al 2013]. GMPPA-CDG was identified in several individuals with cognitive impairment and autonomic dysfunction including achalasia and alacrima.

2021年6月22日 · SLC35A2-CDG is a rare form of CDG caused by mutations in the X-linked gene that encodes a UDP-Galactose transporter. The manifestations of the disease include seizures, failure to thrive, delayed myelination, and cerebral atrophy.

SLC35A2-congenital disorder of glycosylation is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

2021年5月26日 · In humans, SLC35A2-CDG (OMIM#300896, formerly known as CDG type IIm) is caused by heterozygous de novo mutations in SLC35A gene and mostly affect female gender due to X−chromosome inactivation. Clinical phenotypes include infantile-onset seizure, global development delay, facial dysmorphism, abnormal liver function, and skeletal abnormalities.

SLC35A2-CDG is caused by mutations in the X-linked SLC35A2 gene encoding the UDP-galactose transporter. SLC35A2 mutations lead to hypogalactosylation of N-glycans. SLC35A2-CDG is characterized by severe neurological symptoms and, in many patients, early-onset epileptic encephalopathy.