Molybdenum Co‐factor Deficiency: an Easily Missed Inborn Eror of Metaboism
- 1 August 1988
- journal article
- case report
- Published by Wiley in Developmental Medicine and Child Neurology
- Vol. 30 (4) , 531-535
- https://doi.org/10.1111/j.1469-8749.1988.tb04781.x
Abstract
A female patient is described with combined deficiency of sulphite, zanthine and aldehyde oxidase. She presented at the age of four weeks with intractable seizures. Initially the diagnosis was suspected because of a very low serum urate level (23 mumol/1-1). This condition can be easily missed and it is proposed that measurement of serum urate be included in the metabolic assessment of neonates with unexplained seizures and developmental delay.Keywords
This publication has 5 references indexed in Scilit:
- Combined xanthine and sulphite oxidase defect due to a deficiency of molybdenum cofactorJournal of Inherited Metabolic Disease, 1985
- Combined deficiency of xanthine oxidase and sulphite oxidase: Diagnosis of a new case followed by an antenatal diagnosisJournal of Inherited Metabolic Disease, 1985
- Multiple molybdoenzyme deficiencies due to an inborn error of molybdenum cofactor metabolism: Two additional cases in a new familyJournal of Inherited Metabolic Disease, 1983
- Absence of hepatic molybdenum cofactor: An inborn error of metabolism leading to a combined deficiency of sulphite oxidase and xanthine dehydrogenaseJournal of Inherited Metabolic Disease, 1983
- Screening for sulfite oxidase deficiencyClinica Chimica Acta; International Journal of Clinical Chemistry, 1969