molybdenum-cofactor has been researched along with Intracranial-Hemorrhages* in 1 studies
1 other study(ies) available for molybdenum-cofactor and Intracranial-Hemorrhages
Article | Year |
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Molybdenum cofactor deficiency presenting with severe metabolic acidosis and intracranial hemorrhage.
Molybdenum cofactor deficiency leads to combined deficiency of sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzyme activities. The major clinic symptom is intractable seizures seen soon after birth. No definite therapy is available. We report here a newborn with molybdenum cofactor deficiency-associated Dandy-Walker malformation who presented with severe lactic acidosis and intracranial hemorrhage. Topics: Acidosis, Lactic; Coenzymes; Dandy-Walker Syndrome; Female; Humans; Infant, Newborn; Intracranial Hemorrhages; Metabolism, Inborn Errors; Metalloproteins; Molybdenum Cofactors; Pteridines | 2005 |