The Journal of Pediatrics 1993-10-01

Molybdenum cofactor deficiency.

G L Arnold, C L Greene, J P Stout, S I Goodman

文献索引：J. Pediatr. 123(4) , 595-8, (1993)

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摘要

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.