Branched-chain ketoaciduria (maple syrup urine disease)   171

General: Deficiency in the oxidative decarboxylation of the corresponding α-ketoacids; possibly autosomal recessive inheritance; both sexes affected; onset in first week of life.

Ocular: Ptosis; epicanthal folds; hypertelorism; prominence of supraorbital ridges; cataract; strabismus; decreased or absent pupillary reaction to light; horizontal nystagmus; optic atrophy; ophthalmoplegia.

Clinical: Maple syrup odor of urine; neurologic symptoms; death may follow promptly or the patient may live for a decade during which severe mental retardation is apparent; vomiting; failure to thrive; absence of grasping reflex; generalized rigidity; hypoglycemic crisis; cortical blindness.

Burke JP, et al. Ophthalmic findings in maple syrup urine disease. Metab Pediatr Syst Ophthalmol 1991; 14:12-l5.

Collins JF. Handbook of Clinical Ophthalmology. New York: Masson, 1982:247.

Fraunfelder FT, Roy FH. Current Ocular Therapy, 5th ed. Philadelphia: WB Saunders, 2000.

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

Roy FH, Kelly ML. Maple syrup urine disease. J Pediatr Ophthalmol 1973; 10:70-73.