{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,23]],"date-time":"2026-01-23T23:31:12Z","timestamp":1769211072387,"version":"3.49.0"},"reference-count":13,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2010,9,24]],"date-time":"2010-09-24T00:00:00Z","timestamp":1285286400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Molybdenum cofactor (Moco) deficiency is a rare neurometabolic disorder, characterized by neurological impairment and refractive seizures, due to toxic accumulation of sulfite in the brain. Earlier it was suggested that in Moco\u2010deficient humans maternal clearance of neurotoxic metabolites prevents prenatal brain damage. However, limited data are available about the time profile in which neurophysiologic deterioration occurs after birth. The amplitude\u2010integrated electroencephalography (aEEG) is a bedside method in neonates to monitor cerebral recovery after hypoxic\u2010ischemic insults, detect epileptic activity, and evaluate antiepileptic drug treatment. We describe a chronological series of changes in aEEG tracings in a neonate with Moco deficiency. He presented with myoclonic spasms and hypertonicity a few hours after birth, however, the aEEG pattern was still normal. Within 2 days, the aEEG rapidly changed into a burst suppression pattern with repetitive seizures. After antiepileptic treatment, the aEEG remained abnormal. In this patient, the normal aEEG pattern at birth may have been due to maternal clearance of sulfite in utero. After birth, accumulation of sulfite causes progressive brain damage, reflected by the progressive depression of the aEEG tracings. This is in agreement with the results from a Moco\u2010deficient mouse model, suggesting that maternal sulfite clearance suppresses prenatal brain damage. To our knowledge, this is the first case report describing the chronological changes in the aEEG pattern in a Moco\u2010deficient patient. Insight into the time profile in which neurologic deterioration in Moco\u2010deficient humans occurs is essential, especially when potential treatment strategies are being evaluated.<\/jats:p>","DOI":"10.1007\/s10545-010-9198-z","type":"journal-article","created":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T15:47:54Z","timestamp":1285256874000},"page":"401-407","source":"Crossref","is-referenced-by-count":14,"title":["Chronological changes of the amplitude\u2010integrated EEG in a neonate with molybdenum cofactor deficiency"],"prefix":"10.1002","volume":"33","author":[{"given":"Sintha D.","family":"Sie","sequence":"first","affiliation":[{"name":"Department of Neonatology VU University Medical Center P.O. Box 7057 Amsterdam 1007 MB The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rogier C. J.","family":"de Jonge","sequence":"additional","affiliation":[{"name":"Department of Neonatology VU University Medical Center P.O. Box 7057 Amsterdam 1007 MB The Netherlands"},{"name":"Department of Neonatology Emma Children's Hospital, Academic Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henk J.","family":"Blom","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margot F.","family":"Mulder","sequence":"additional","affiliation":[{"name":"Department of Metabolic Disorders VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jochen","family":"Reiss","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Humangenetik Universit\u00e4tskliniken G\u00f6ttingen G\u00f6ttingen Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. J.","family":"Vermeulen","sequence":"additional","affiliation":[{"name":"Department of Child Neurology VU University Medical Center Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cacha M. P. C. D.","family":"Peeters\u2010Scholte","sequence":"additional","affiliation":[{"name":"Department of Child Neurology VU University Medical Center Amsterdam The Netherlands"},{"name":"Department of Pediatric Neurology Leiden University Medical Center Leiden The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,9,24]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.siny.2006.07.011"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.505"},{"key":"e_1_2_5_4_1","first-page":"3163","volume-title":"The metabolic & molecular bases of inherited disease","author":"Johnson JL","year":"2001"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10223"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2005.01.008"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddh136"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature08302"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00247-007-0558-2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/08830738050200021501"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.109.5.772"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2004.tb02753.x"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2009-2192"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.semperi.2009.10.002"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-010-9198-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T06:23:12Z","timestamp":1694758992000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-010-9198-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,9,24]]},"references-count":13,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1007\/s10545-010-9198-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-010-9198-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,9,24]]}}}