title: Molybdenum cofactor deficiency in a Malaysian child.
abstract: Molybdenum cofactor deficiency is a rare autosomal recessive disorder with devastating neurological manifestations, characterised by neonatal-onset encephalopathy mimicking hypoxic-ischaemic insult, intractable seizure, and feeding and respiratory difficulties. It is often fatal in the early life. We report an affected 8-year-old boy, who presented with severe neurological manifestations since birth, but without clinically-significant seizure. Molybdenum cofactor deficiency must be included in the differential diagnosis of patients presenting with unexplained encephalopathy in the newborn period, and whose neuroimaging findings are consistent with hypoxic ischaemic encephalopathy. The classic laboratory hallmark of this disorder is low serum uric acid, positive urine sulphite dipstick test, and elevated urinary S-sulphocysteine, hypoxanthine and xanthine.
authors.affiliation: Clinical Genetic Unit, Paediatric Institute, Hospital Kuala Lumpur, Jalan Pahang, Kuala Lumpur 50586, Malaysia. ngulh@hotmail.com
authors.forename: L H
authors.initials: LH
authors.lastname: Ngu
authors.forename: B
authors.initials: B
authors.lastname: Afroze
authors.forename: B C
authors.initials: BC
authors.lastname: Chen
authors.forename: O
authors.initials: O
authors.lastname: Affandi
authors.forename: M Y
authors.initials: MY
authors.lastname: Zabedah
mesh_terms: D001927:Brain Diseases / Q000473:pathology; D002648:Child; D003067:Coenzymes / Q000172:deficiency*; D003545:Cysteine / Q000031:analogs & derivatives / Q000097:blood; D003937:Diagnosis, Differential; D006801:Humans; D019271:Hypoxanthine / Q000378:metabolism; D000860:Hypoxia / Q000473:pathology; D007511:Ischemia / Q000473:pathology; D008296:Malaysia; D008297:Male; D008667:Metalloproteins / Q000172:deficiency*; D000090006:Molybdenum Cofactors; D011621:Pteridines; D013447:Sulfites / Q000652:urine; D014527:Uric Acid / Q000378:metabolism; D019820:Xanthine / Q000378:metabolism
chemical_list: D003067:Coenzymes; D003545:Cysteine; D019271:Hypoxanthine; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D011621:Pteridines; D013447:Sulfites; D014527:Uric Acid; D019820:Xanthine; C011119:S-sulphocysteine; C022261:molybdopterin