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Journal of Child Neurology
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Molybdenum Cofactor Deficiency Presenting With Severe Metabolic Acidosis and Intracranial Hemorrhage

Ozlem Teksam, MD

Department of Pediatrics Division of Neonatology Hacettepe University School of Medicine Ihsan Dogramaci Children's Hospital Ankara, Turkey, oteksam{at}yahoo.com.

Murat Yurdakok, MD

Department of Pediatrics Division of Neonatology Hacettepe University School of Medicine Ihsan Dogramaci Children's Hospital Ankara, Turkey

Turgay Coskun, MD

Department of Pediatrics Division of Neonatology Hacettepe University School of Medicine Ihsan Dogramaci Children's Hospital Ankara, Turkey

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. (J Child Neurol 2004; 19:155—157).

Journal of Child Neurology, Vol. 20, No. 2, 155-157 (2005)
DOI: 10.1177/08830738050200021501
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