title: Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).
abstract: Molybdenum cofactor deficiency is a rare inborn error of metabolism. The major clinical symptoms are intractable neonatal seizures, progressive encephalopathy, facial dysmorphic features and feeding difficulties. Most of the patients are misdiagnosed as hypoxic ischemic encephalopathy. The majority of patients have mutations in the MOCS1 and MOCS2 genes. Although the therapeutic treatment strategies have not been improved, genetic analysis is essential to elucidate the disease. Here, we report a review of 12 patients with Molybdenum cofactor deficiency reported from Turkey.
authors.affiliation: Dokuz Eylul University Hospital, Department of Pediatrics, Division of Pediatric Neurology, 35340 Balcova, Izmir, Turkey. dr.erhanbayram@yahoo.com
authors.forename: Erhan
authors.initials: E
authors.lastname: Bayram
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Topcu
authors.forename: Pakize
authors.initials: P
authors.lastname: Karakaya
authors.forename: Uluc
authors.initials: U
authors.lastname: Yis
authors.forename: Handan
authors.initials: H
authors.lastname: Cakmakci
authors.forename: Kimiyoshi
authors.initials: K
authors.lastname: Ichida
authors.forename: Semra Hiz
authors.initials: SH
authors.lastname: Kurul
mesh_terms: D019755:Carbon-Carbon Lyases; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008664:Metal Metabolism, Inborn Errors / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D008983:Molybdoferredoxin / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D013466:Sulfurtransferases / Q000235:genetics
chemical_list: D008983:Molybdoferredoxin; D009687:Nuclear Proteins; D013466:Sulfurtransferases; C085585:molybdopterin synthase; D019755:Carbon-Carbon Lyases; C114840:MOCS1 protein, human