3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome is a rare condition caused by a mutation in the SERAC1 gene. The term '3-methylglutaconic aciduria' refers to a group of disorders where there is an abnormal build-up of certain substances in the body. The name of the condition highlights some of the key features that have been observed in people with this disorder, including hearing loss (deafness), brain function problems (encephalopathy), and neurological signs similar to those seen in Leigh syndrome. This condition is one among several forms of 3-methylglutaconic aciduria, and its underlying cause is clearly linked to a SERAC1 gene mutation. While the names and classification help identify the disorder, detailed information about the overall symptoms, progression, and management is still being studied.

The name of the condition suggests that people with this disorder may experience hearing loss (deafness), issues with brain function (encephalopathy), and neurological signs similar to those seen in Leigh syndrome. However, detailed and specific symptom patterns and frequency are not fully detailed in the available sources.

This condition is caused by a mutation in the SERAC1 gene. The mutation interferes with how the body processes certain substances, which contributes to the development of the disorder. It is an inherited condition, meaning it is passed down from parents to children.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.