Molybdenum cofactor deficiency.
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.
Arnold
G L
GL
Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock 72205.
Greene
C L
CL
Stout
J P
JP
Goodman
S I
SI
D003067:Coenzymes / Q000172:deficiency*; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics; D008667:Metalloproteins / Q000378:metabolism*; D008982:Molybdenum / Q000378:metabolism*; D000090006:Molybdenum Cofactors; D011621:Pteridines / Q000378:metabolism*; D012640:Seizures / Q000209:etiology*
D003067:Coenzymes; D008667:Metalloproteins; D008982:Molybdenum; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin