1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-12-58-b 10.15844/pedneurbriefs-12-8-3 Metabolic Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Gene Location for Molybdenum Cofactor Deficiency http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 1998 01 05 2016 12 8 58 59 Copyright: © 1998 The Author(s) 1998 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping

Linkage of a molybdenum cofactor deficiency (MoCoD) gene to an 8-cM region on chromosome 6p21.3 has been localized by homozygosity mapping in 2 consanguineous affected kindreds of Israeli-Arab origin, including 5 patients, at the Department of Genetics, Tamkin Research Facility, Technion-Israel Institute of Technology, Haifa, Israel.

 Molybdenum Cofactor Deficiency Opisthotonus Xanthine Dehydrogenase

Linkage of a molybdenum cofactor deficiency (MoCoD) gene to an 8-cM region on chromosome 6p21.3 has been localized by homozygosity mapping in 2 consanguineous affected kindreds of Israeli-Arab origin, including 5 patients, at the Department of Genetics, Tamkin Research Facility, Technion-Israel Institute of Technology, Haifa, Israel. These findings allow prenatal diagnosis with microsatellite markers and carrier detection of this fatal disorder. [1]

COMMENT. Molybdenum cofactor deficiency (MoCoD) is a fatal inherited, autosomal recessive, disorder manifesting with neonatal seizures unresponsive to therapy, opisthotonus, retardation, craniofacial dysmorphic features, ectopia lentis, and progressive neurologic deterioration. MoCoD is caused by abnormal biosynthesis of the Mo-complexed pterin cofactor for the enzymes: sulfite oxidase, xanthine dehydrogenase, and aldehyde oxidase. Postnatal diagnosis is suggested by hypouricemia and elevated urinary sulfite, and confirmed by sulfite oxidase deficiency in fibroblasts. Microsatellite markers may now be used for prenatal diagnosis, in addition to chorionic villus sampling and sulfite oxidase assay. Dietary therapy with methionine restriction and cysteine supplements has provided short-term clinical improvements (see Progress in Pediatric Neurology II, PNB Publ, 1994;p475).

Shalata A Mandel H Reiss J Szargel R Cohen-Akenine A Dorche C Localization of a gene for molybdenum cofactor deficiency, on the short arm of chromosome 6, by homozygosity mapping Am J Hum Genet 1998 Jul 63 1 148 154 10.1086/301916 9634514