title: Maternal uniparental isodisomy is responsible for serious molybdenum cofactor deficiency.
abstract: Molybdenum cofactor (MoCo) deficiency is a rare autosomal recessive inherited metabolic disorder resulting in the combined deficiency of aldehyde oxidase, xanthine dehydrogenase, and sulfite oxidase. We report a male infant with MoCo deficiency whose clinical findings consisted of microcephaly, intractable seizures soon after birth, feeding difficulties, and developmental delay. Sequencing of MOCS1, MOCS2, and GEPH genes, and single nucleotide polymorphism genotyping array analysis showed, to our knowledge, unusual inheritance of MoCo deficiency/maternal uniparental isodisomy for the first time in the literature. At 10 months of age, he now has microcephaly and developmental delay, and his seizures are controlled with phenobarbital, clonozepam, and vigabatrin therapy.
authors.affiliation: Department of Pediatric Neurology, Erciyes University Medical Faculty, Kayseri, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Gümüş
authors.forename: Stijn
authors.initials: S
authors.lastname: Ghesquiere
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Per
authors.forename: Meda
authors.initials: M
authors.lastname: Kondolot
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Gamze
authors.initials: G
authors.lastname: Poyrazoğlu
authors.forename: Sefer
authors.initials: S
authors.lastname: Kumandaş
authors.forename: John
authors.initials: J
authors.lastname: Engelen
authors.forename: Munis
authors.initials: M
authors.lastname: Dundar
authors.forename: Ahmet Okay
authors.initials: AO
authors.lastname: Cağlayan
mesh_terms: D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins / Q000235:genetics; D003067:Coenzymes / Q000172:deficiency*; D002658:Developmental Disabilities / Q000235:genetics; D005247:Feeding Behavior; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D008661:Metabolism, Inborn Errors / Q000235:genetics*; D008667:Metalloproteins / Q000172:deficiency*; D008831:Microcephaly / Q000235:genetics; D000090006:Molybdenum Cofactors; D009035:Mothers; D009687:Nuclear Proteins / Q000235:genetics; D020641:Polymorphism, Single Nucleotide; D011621:Pteridines; D012640:Seizures / Q000188:drug therapy / Q000235:genetics; D013466:Sulfurtransferases / Q000235:genetics; D024182:Uniparental Disomy
chemical_list: D019755:Carbon-Carbon Lyases; D002352:Carrier Proteins; D003067:Coenzymes; D008565:Membrane Proteins; D008667:Metalloproteins; D000090006:Molybdenum Cofactors; D009687:Nuclear Proteins; D011621:Pteridines; D013466:Sulfurtransferases; C073441:gephyrin; C022261:molybdopterin; C085585:molybdopterin synthase; C114840:MOCS1 protein, human