title: Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP.
abstract: Molybdenum cofactor deficiency (MoCD) is a lethal autosomal recessive inborn error of metabolism with devastating neurologic manifestations. Currently, experimental treatment with cyclic pyranopterin monophosphate (cPMP) is available for patients with MoCD type A caused by a mutation in the MOCS-1 gene. Here we report the first case of an infant, prenatally diagnosed with MoCD type A, whom we started on treatment with cPMP 4 hours after birth. The most reliable method to evaluate neurologic functioning in early infancy is to assess the quality of general movements (GMs) and fidgety movements (FMs). After a brief period of seizures and cramped-synchronized GMs on the first day, our patient showed no further clinical signs of neurologic deterioration. Her quality of GMs was normal by the end of the first week. Rapid improvement of GM quality together with normal FMs at 3 months is highly predictive of normal neurologic outcome. We demonstrated that a daily cPMP dose of even 80 μg/kg in the first 12 days reduced the effects of neurodegenerative damage even when seizures and cramped-synchronized GMs were already present. We strongly recommend starting cPMP treatment as soon as possible after birth in infants diagnosed with MoCD type A.
authors.affiliation: Division of Metabolic Diseases, Department of Pediatrics, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, Netherlands.
authors.forename: Marrit M
authors.initials: MM
authors.lastname: Hitzert
authors.forename: Arend F
authors.initials: AF
authors.lastname: Bos
authors.forename: Klasien A
authors.initials: KA
authors.lastname: Bergman
authors.forename: Alex
authors.initials: A
authors.lastname: Veldman
authors.forename: Guenter
authors.initials: G
authors.lastname: Schwarz
authors.forename: José Angel
authors.initials: JA
authors.lastname: Santamaria-Araujo
authors.forename: Rebecca
authors.initials: R
authors.lastname: Heiner-Fokkema
authors.forename: Deborah A
authors.initials: DA
authors.lastname: Sival
authors.forename: Roelineke J
authors.initials: RJ
authors.lastname: Lunsing
authors.forename: Sita
authors.initials: S
authors.lastname: Arjune
authors.forename: Jos G W
authors.initials: JG
authors.lastname: Kosterink
authors.forename: Francjan J
authors.initials: FJ
authors.lastname: van Spronsen
mesh_terms: D020820:Dyskinesias / Q000175:diagnosis / Q000209:etiology; D004569:Electroencephalography; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008664:Metal Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000188:drug therapy*; D008983:Molybdoferredoxin; D009943:Organophosphorus Compounds / Q000627:therapeutic use*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011622:Pterins / Q000627:therapeutic use*; D012640:Seizures / Q000175:diagnosis / Q000209:etiology; D014741:Video Recording
chemical_list: D008983:Molybdoferredoxin; D009943:Organophosphorus Compounds; D011622:Pterins; C549445:nulibry