Universität zu Köln

Edwards, Matthew ORCID: 0000-0001-8437-8120, Roeper, Juliane, Allgood, Catherine, Chin, Raymond, Santamaria, Jose, Wong, Flora, Schwarz, Guenter ORCID: 0000-0002-2118-9338 and Whitehall, John (2015). Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby. Meta Gene, 3. S. 43 - 50. AMSTERDAM: ELSEVIER SCIENCE BV. ISSN 2214-5400

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Abstract

Background: Molybdenum cofactor deficiency (MOCD) is a severe autosomal recessive neonatal metabolic disease that causes seizures and death or severe brain damage. Symptoms, signs and cerebral images can resemble those attributed to intrapartum hypoxia. In humans, molybdenum cofactor (MOCO) has been found to participate in four metabolic reactions: aldehyde dehydrogenase (or oxidase), xanthine oxidoreductase (or oxidase) and sulfite oxidase, and some of the components ofmolybdenum cofactor synthesis participate in amidoxime reductase. A newborn girl developed refractory seizures, opisthotonus, exaggerated startle reflexes and vomiting on the second day of life. Treatment included intravenous fluid, glucose supplementation, empiric antibiotic therapy and anticonvulsant medication. Her encephalopathy progressed, and she was given palliative care and died aged 1 week. There were no dysmorphic features, including ectopia lentis but ultrasonography revealed a thin corpus callosum. Objectives: The aim of this study is to provide etiology, prognosis and genetic counseling. Methods: Biochemical analysis of urine, blood, Sanger sequencing of leukocyte DNA, and analysis of the effect of the mutation on protein expression. Results: Uric acid level was low in blood, and S-sulfo-L-cysteine and xanthine were elevated in urine. Compound Z was detected in urine. TwoMOCS2 gene mutations were identified: c. 501+2delT, which disrupts a conserved splice site sequence, and c. 419C N T (pS140F). Protein expression studies confirmed that the p. S140F substitution was pathogenic. The parents were shown to be heterozygous carriers. Conclusions: Mutation analysis confirmed that theMOCD in this family could not be treatedwith cPMP infusion, and enabled prenatal diagnosis and termination of a subsequent affected pregnancy. (C) 2014 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Edwards, Matthew UNSPECIFIED orcid.org/0000-0001-8437-8120 UNSPECIFIED Roeper, Juliane UNSPECIFIED UNSPECIFIED UNSPECIFIED Allgood, Catherine UNSPECIFIED UNSPECIFIED UNSPECIFIED Chin, Raymond UNSPECIFIED UNSPECIFIED UNSPECIFIED Santamaria, Jose UNSPECIFIED UNSPECIFIED UNSPECIFIED Wong, Flora UNSPECIFIED UNSPECIFIED UNSPECIFIED Schwarz, Guenter UNSPECIFIED orcid.org/0000-0002-2118-9338 UNSPECIFIED Whitehall, John UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-414058
DOI:	10.1016/j.mgene.2014.12.003
Journal or Publication Title:	Meta Gene
Volume:	3
Page Range:	S. 43 - 50
Date:	2015
Publisher:	ELSEVIER SCIENCE BV
Place of Publication:	AMSTERDAM
ISSN:	2214-5400
Language:	English
Faculty:	Faculty of Mathematics and Natural Sciences
Divisions:	Faculty of Mathematics and Natural Sciences > Department of Chemistry > Institute of Biochemistry
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/41405