3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome (MEGDEL)

Alias:

Megdel Syndrome

Megdel

Mgca6

3-Methylglutaconic Aciduria with Dystonia-Deafness, Hepatopathy, Encephalopathy, and Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Hearing Loss-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Deafness-Encephalopathy-Leigh-Like Syndrome

3-Methylglutaconic Aciduria, Type Vi

Megdhel

3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy, and Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type Iv with Sensorineural Deafness, Encephalopathy and Leigh-Like Syndrome

3-Methylglutaconic Aciduria with Deafness, Encephalopathy, Leigh-Like Syndrome

3-Methylglutaconic Aciduria Type 6

Megdhel Syndrome

Serac1 Defect

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome, also known as megdel syndrome, is related to mohr-tranebjaerg syndrome and 3-methylglutaconic aciduria, type i, and has symptoms including muscle spasticity and abnormality of extrapyramidal motor function. An important gene associated with 3-Methylglutaconic Aciduria with Deafness, Encephalopathy, and Leigh-Like Syndrome is SERAC1 (Serine Active Site Containing 1), and among its related pathways/superpathways are Metabolism and Peroxisomal lipid metabolism. Affiliated tissues include liver and brain, and related phenotypes are seizure and microcephaly

Related ID：

MALACARDS：3MT013

OMIM：614739

MESH：D008661