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.
Teksam
Ozlem
O
Department of Pediatrics, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Ankara, Turkey. oteksam@yahoo.com
Yurdakok
Murat
M
Coskun
Turgay
T
D000140:Acidosis, Lactic / Q000209:etiology*; D003067:Coenzymes / Q000172:deficiency*; D003616:Dandy-Walker Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D020300:Intracranial Hemorrhages / Q000209:etiology*; D008661:Metabolism, Inborn Errors / Q000150:complications* / Q000175:diagnosis; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D011621:Pteridines
D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; C022261:molybdopterin