Hitzert, Marrit M., Bos, Arend F., Bergman, Klasien A., Veldman, Alex, Schwarz, Guenter ORCID: 0000-0002-2118-9338, Santamaria-Araujo, Jose Angel, Heiner-Fokkema, Rebecca, Sival, Deborah A., Lunsing, Roelineke J., Arjune, Sita, Kosterink, Jos G. W. and van Spronsen, Francjan J. (2012). Favorable Outcome in a Newborn With Molybdenum Cofactor Type A Deficiency Treated With cPMP. Pediatrics, 130 (4). S. E1005 - 6. ELK GROVE VILLAGE: AMER ACAD PEDIATRICS. ISSN 1098-4275
Full text not available from this repository.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 mu g/kg in the first 12 days reduced the effects of neuro-degenerative 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. Pediatrics 2012; 130: e1005-e1010
Item Type: | Journal Article | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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URN: | urn:nbn:de:hbz:38-481779 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
DOI: | 10.1542/peds.2011-3330 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Journal or Publication Title: | Pediatrics | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Volume: | 130 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Number: | 4 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Page Range: | S. E1005 - 6 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Date: | 2012 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Publisher: | AMER ACAD PEDIATRICS | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Place of Publication: | ELK GROVE VILLAGE | ||||||||||||||||||||||||||||||||||||||||||||||||||||
ISSN: | 1098-4275 | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Language: | English | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Faculty: | Unspecified | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Divisions: | Unspecified | ||||||||||||||||||||||||||||||||||||||||||||||||||||
Subjects: | no entry | ||||||||||||||||||||||||||||||||||||||||||||||||||||
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URI: | http://kups.ub.uni-koeln.de/id/eprint/48177 |
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