Sulfite oxidase deficiency 1

General: Rare abnormality of sulfur metabolism in which there is an accumulation of S-sulfocysteine, thiosulfate, and sulfate and a deficiency of sulfite; present at birth; death occurs before age 3 years.

Ocular: Dislocated lens; nystagmus; ectopia lentis.

Clinical: Muscular rigidity; eccentric behavior; coarse face; broad nasal bridge; long philtrum (in association with Leigh syndrome).

Amiel J, et al. Deficit en sulfite oxydase se presentat comme un syndrome de Leigh. Arch Pediatr 1994; 1: 1023-l027.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982.

Harley RD, ed. Pediatric Ophthalmology, 4th ed. Philadelphia: WB Saunders, 1998.