ALG8-congenital disorder of glycosylation

ALG8-congenital disorder of glycosylation is a rare inherited condition that affects how proteins in the body are modified by a process called glycosylation. In people with this disorder, a mutation in the ALG8 gene leads to a block in the initial steps of adding sugar molecules to proteins, which can disturb normal body functioning. The condition is part of a group of disorders known as congenital disorders of N-linked glycosylation. It can impact multiple systems in the body, with symptoms that include issues with the gastrointestinal system, the liver, kidneys, and the brain. Other physical features such as facial dysmorphism, muscular hypotonia, and in some cases, eye issues like cataracts, may also be observed.

People with ALG8-congenital disorder of glycosylation may experience various symptoms including gastrointestinal problems such as diarrhea, vomiting, feeding difficulties, and failure to thrive. They can also have protein-losing enteropathy, swelling due to fluid build-up (edema and ascites), and sometimes even hydrops fetalis. Other signs include an enlarged liver (hepatomegaly), kidney-related problems (renal tubulopathy), coagulation anomalies linked to low platelet counts, brain issues like psychomotor delay, seizures and ataxia, as well as distinct facial features and muscular hypotonia. Cataracts have also been reported in some cases.

This condition is caused by loss-of-function mutations in the ALG8 gene, which is found on chromosome 11q14.1. These mutations disrupt the normal process of protein glycosylation, a critical step needed for proteins to function properly in the body. As a result, multiple organ systems can be affected.

Information about treatment is currently limited for this condition.

The prognosis for people with ALG8-congenital disorder of glycosylation is usually poor, with significant effects on various body systems. This summary reflects observations reported in the literature, though individual prognoses can vary.

Information about research is currently limited for this condition.