Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby

Meta Gene

Volumn 3, Issue , 2015, Pages 43-49

  Edwards, Matthew ^a,b   Roeper, Juliane ^c,d   Allgood, Catherine ^a,b   Chin, Raymond ^a,b   Santamaria, Jose ^c,d   Wong, Flora ^e,f   Schwarz, Guenter ^c,d   Whitehall, John ^a,b  

^a CAMPBELLTOWN HOSPITAL   (Australia)

^b UNIVERSITY OF WESTERN SYDNEY   (Australia)

^c Colbourne Pharmaceuticals GmbH ^*  (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e Monash Newborn   (Australia)

^f MONASH UNIVERSITY   (Australia)

Author keywords

Metabolic encephalopathy; MOCS2A; Molybdenum cofactor deficiency

Indexed keywords

ALDEHYDE DEHYDROGENASE; MOLYBDENUM; SULFITE OXIDASE; XANTHINE OXIDASE;

APGAR SCORE; ARTICLE; CASE REPORT; CORPUS CALLOSUM; ECHOGRAPHY; ECTOPIA LENTIS; ENZYME DEFICIENCY; FEMALE; GENETIC COUNSELING; HUMAN; HYPOPLASIA; MOCS2 GENE DEFICIENCY; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SEIZURE; STARTLE REFLEX;

EID: 84930427061     PISSN: None     EISSN: 22145400     Source Type: Journal    
DOI: 10.1016/j.mgene.2014.12.003     Document Type: Article

References (8)

1. Anonymous Reference NC_000005.10 2014, http://blast.ncbi.nlm.nih.gov/Blast.cgi, National Center for Biotechnology Information, National Library of Medicine.
2. Gutzke G., Fischer B., Mendel R.R., Schwarz G. Thiocarboxylation of molybdopterin synthase provides evidence for the mechanism of dithiolene formation in metal-binding pterins. J. Biol. Chem. 2001, 276:36268-36274.
3. Hitzert M.M., Bos A.F., Bergman K.A., Veldman A., Schwarz G., Santamaria-Araujo J.A., Heiner-Fokkema R., Sival D.A., Lunsing R.J., Arjune S., Kosterink J.G., van Spronsen F.J. Favorable outcome in a newborn with molybdenum cofactor type A deficiency treated with cPMP. Pediatrics 2012, 130:e1005-e1010.
4. Llamas A., Mendel R.R., Schwarz G. Synthesis of adenylated molybdopterin: an essential step for molybdenum insertion. J. Biol. Chem. 2004, 279:55241-55246.
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7. Topcu M., Coskun T., Haliloglu G., Saatci I. Molybdenum cofactor deficiency: report of three cases presenting as hypoxic-ischemic encephalopathy. J. Child Neurol. 2001, 16:264-270.
8. Veldman A., Santamaria-Araujo J.A., Sollazzo S., Pitt J., Gianello R., Yaplito-Lee J., Wong F., Ramsden C.A., Reiss J., Cook I., Fairweather J., Schwarz G. Successful treatment of molybdenum cofactor deficiency type A with cPMP. Pediatrics 2010, 125:e1249-e1254.