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Case Reports
. 1993 Oct;123(4):595-8.
doi: 10.1016/s0022-3476(05)80961-8.

Molybdenum cofactor deficiency

G L Arnold  1 , C L Greene, J P Stout, S I Goodman
Affiliations
Case Reports

Molybdenum cofactor deficiency

G L Arnold et al. J Pediatr. 1993 Oct.

Abstract

We describe a new case of molybdenum cofactor deficiency, an underrecognized inborn error of metabolism that results in neonatal seizures and neurologic abnormalities. Characteristic biochemical defects in affected individuals include hypouricemia, elevated urine sulfate (detectable by dipstick), and elevated S-sulfocysteine (detectable by anion exchange chromatography). This disorder should be considered in the differential diagnosis of neonatal seizures.

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