OPA3-Related 3-Methylglutaconic Aciduria (Costeff Syndrome) is an uncommon disorder that affects mitochondrial function.
Former designation: 3-MGCA-3
Chromosome: 19q13.32
Gene: OPA3 (optic atrophy 3 protein)
The transcribed protein is located on the outer mitochondrial membrane.
Inheritance: autosomal recessive
Groups affected: Iraqi Jews, Turkish, Kurdish
Key clinical findings:
(1) choreoathetoid movement disorder and ataxia
(2) extrapyramidal dysfunction and spasticity
(3) bilateral early-onset optic atrophy
(4) urine excretion of 3-methylglutaconic acid (3-MGA) and 3-methylglutaconate (3-MGC)
Variable findings:
(1) cognitive impairment
(2) horizontal nystagmus
(3) strabismus
The patient may deteriorate if exposed to a medication that interferes with mitochondrial function.
