SRD5A3-congenital disorder of glycosylation
Acesse agora, gratuitamente, o National Institutes of Health e consulte, com o suporte da inteligência artificial do ProtoMedi, informações técnicas detalhadas sobre este e outros medicamentos. Obtenha respostas rápidas e confiáveis sobre interações, indicações e precauções — no momento em que você mais precisa
Dados do National Institutes of Health
| SRD5A3-congenital disorder of glycosylation : SRD5A3-congenital disorder of glycosylation (SRD5A3-CDG, formerly known as congenital disorder of glycosylation type Iq) is an inherited condition that causes neurological and vision problems and other signs and symptoms. The pattern and severity of this condition's features vary widely among affected individuals. Individuals with SRD5A3-CDG typically develop signs and symptoms of the condition during infancy or early childhood. Most individuals with SRD5A3-CDG have intellectual disability, vision problems, unusual facial features,low muscle tone (hypotonia), and problems with coordination and balance (ataxia). Vision problems in SRD5A3-CDG often include involuntary side-side movements of the eyes (nystagmus), a gap or hole in one of the structures of the eye (coloboma), underdevelopment of the nerves that carry signals between the eyes and the brain(optic nerve hypoplasia), or vision loss early in life (early-onset severe retinal dystrophy). Over time, affected individuals may develop clouding of the lenses of the eyes (cataracts) or increased pressure in the eyes (glaucoma). Other features of SRD5A3-CDG can include skin rash, unusually small red blood cells (microcytic anemia),and liver problems. | |
| Review Date: 27/09/2021 | Updated By: |