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.

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