3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the SERAC1 gene.
MONDO:0004069
inborn mitochondrial metabolism disorder
is_a
MONDO:0017359
3-methylglutaconic aciduria
is_a
MONDO:0018117
disorder of phospholipids, sphingolipids and fatty acids biosynthesis
is_a
MONDO:0100548
SERAC1-related neurological disorder
is_a
3-MGCA type IV (formerly)
related
3-MGCA-4 (formerly)
related
3-methylglutaconic aciduria caused by mutation in SERAC1
exact
3-methylglutaconic aciduria type VI
related
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome
exact
3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
exact
MEGDEL
exact
MEGDEL syndrome
exact
MGCA6
exact
SERAC1 3-methylglutaconic aciduria
exact
SERAC1 defect
related