{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T18:06:27Z","timestamp":1790618787779,"version":"4.1.0"},"reference-count":12,"publisher":"American Academy of Pediatrics (AAP)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2010,5,1]]},"abstract":"<jats:p>Molybdenum cofactor deficiency (MoCD) is a rare metabolic disorder characterized by severe and rapidly progressive neurologic damage caused by the functional loss of sulfite oxidase, 1 of 4 molybdenum-dependent enzymes. To date, no effective therapy is available for MoCD, and death in early infancy has been the usual outcome. We report here the case of a patient who was diagnosed with MoCD at the age of 6 days. Substitution therapy with purified cyclic pyranopterin monophosphate (cPMP) was started on day 36 by daily intravenous administration of 80 to 160 \u03bcg of cPMP\/kg of body weight. Within 1 to 2 weeks, all urinary markers of sulfite oxidase (sulfite, S-sulfocysteine, thiosulfate) and xanthine oxidase deficiency (xanthine, uric acid) returned to almost normal readings and stayed constant (&amp;gt;450 days of treatment). Clinically, the infant became more alert, convulsions and twitching disappeared within the first 2 weeks, and an electroencephalogram showed the return of rhythmic elements and markedly reduced epileptiform discharges. Substitution of cPMP represents the first causative therapy available for patients with MoCD. We demonstrate efficient uptake of cPMP and restoration of molybdenum cofactor\u2013dependent enzyme activities. Further neurodegeneration by toxic metabolites was stopped in the reported patient. We also demonstrated the feasibility to detect MoCD in newborn-screening cards to enable early diagnosis.<\/jats:p>","DOI":"10.1542\/peds.2009-2192","type":"journal-article","created":{"date-parts":[[2010,4,13]],"date-time":"2010-04-13T03:04:12Z","timestamp":1271127852000},"page":"e1249-e1254","source":"Crossref","is-referenced-by-count":179,"title":["Successful Treatment of Molybdenum Cofactor Deficiency Type A With cPMP"],"prefix":"10.1542","volume":"125","author":[{"given":"Alex","family":"Veldman","sequence":"first","affiliation":[{"name":"Monash Newborn, Monash Medical Centre and Ritchie Centre for Baby Heath Research, Monash Institute for Medical Research, Monash University, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 Angel","family":"Santamaria-Araujo","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine, University of Cologne, Cologne, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvio","family":"Sollazzo","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine, University of Cologne, Cologne, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Pitt","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia;"},{"name":"Department of Paediatrics, University of Melbourne, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Gianello","sequence":"additional","affiliation":[{"name":"Orphatec Pharmaceuticals GmbH, Niederkassel, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joy","family":"Yaplito-Lee","sequence":"additional","affiliation":[{"name":"Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flora","family":"Wong","sequence":"additional","affiliation":[{"name":"Monash Newborn, Monash Medical Centre and Ritchie Centre for Baby Heath Research, Monash Institute for Medical Research, Monash University, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clive Andrew","family":"Ramsden","sequence":"additional","affiliation":[{"name":"Monash Newborn, Monash Medical Centre and Ritchie Centre for Baby Heath Research, Monash Institute for Medical Research, Monash University, Melbourne, Australia;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jochen","family":"Reiss","sequence":"additional","affiliation":[{"name":"Department of Human Genetics, University of Goettingen, Goettingen, Germany; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iain","family":"Cook","sequence":"additional","affiliation":[{"name":"Chemical Analysis, Bulleen, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jon","family":"Fairweather","sequence":"additional","affiliation":[{"name":"Chemical Analysis, Bulleen, Melbourne, Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guenter","family":"Schwarz","sequence":"additional","affiliation":[{"name":"Institute of Biochemistry, Department of Chemistry and Center for Molecular Medicine, University of Cologne, Cologne, Germany;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2010,5,1]]},"reference":[{"key":"2021120905331632400_B1","first-page":"3163","article-title":"Molybdenum cofactor deficiency and isolated sulfite oxidase deficiency","volume-title":"The Metabolic and Molecular Bases of Inherited 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