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

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.
Uniprot Description An autosomal recessive disorder characterized by childhood onset of delayed psychomotor development or psychomotor regression, sensorineural deafness, spasticity or dystonia, and increased excretion of 3-methylglutaconic acid. Brain imaging shows cerebral and cerebellar atrophy as well as lesions in the basal ganglia reminiscent of Leigh syndrome. Laboratory studies show increased serum lactate and alanine, mitochondrial oxidative phosphorylation defects, abnormal mitochondria, abnormal phosphatidylglycerol and cardiolipin profiles in fibroblasts, and abnormal accumulation of unesterified cholesterol within cells.
Disease Ontology Description A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25.
Mondo Term and Equivalent IDs
MONDO:0013875:  3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
GARD:0012963: 
Orphanet:352328: 
SCTID:711409002: 
UMLS:C3553597: