Molybdenum co-factor deficiency: an easily missed inborn error of metabolism.
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.
Aukett
A
A
Dudley Road Hospital, Birmingham.
Bennett
M J
MJ
Hosking
G P
GP
D042931:Aldehyde Oxidase; D000445:Aldehyde Oxidoreductases / Q000172:deficiency; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D003067:Coenzymes; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors / Q000172:deficiency; D011621:Pteridines / Q000172:deficiency*; D011686:Purine-Pyrimidine Metabolism, Inborn Errors / Q000235:genetics*; D014527:Uric Acid / Q000652:urine; D014969:Xanthine Oxidase / Q000172:deficiency
D042931:Aldehyde Oxidase; D000445:Aldehyde Oxidoreductases; D003067:Coenzymes; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D050862:Oxidoreductases Acting on Sulfur Group Donors; D011621:Pteridines; D014527:Uric Acid; D014969:Xanthine Oxidase; C022261:molybdopterin