PMID- 25709896
OWN - NLM
STAT- PubMed-not-MEDLINE
DCOM- 20150224
LR  - 20201001
IS  - 2214-5400 (Print)
IS  - 2214-5400 (Electronic)
IS  - 2214-5400 (Linking)
VI  - 3
DP  - 2015 Feb
TI  - Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a 
      newborn baby.
PG  - 43-9
LID - 10.1016/j.mgene.2014.12.003 [doi]
AB  - 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 of 
      molybdenum 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. Two MOCS2 gene mutations were 
      identified: c.501 + 2delT, which disrupts a conserved splice site sequence, and 
      c.419C > 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 the MOCD in this family could not 
      be treated with cPMP infusion, and enabled prenatal diagnosis and termination of 
      a subsequent affected pregnancy.
FAU - Edwards, Matthew
AU  - Edwards M
AD  - Department of Paediatrics, Campbelltown Hospital, Campbelltown, NSW, Australia ; 
      Department of Paediatrics, School of Medicine, University of Western Sydney, 
      Campbelltown, NSW, Australia.
FAU - Roeper, Juliane
AU  - Roeper J
AD  - Colbourne Pharmaceuticals GmbH, Viktoriaweg 7, 53859 Niederkassel, Germany ; 
      University of Cologne, Germany.
FAU - Allgood, Catherine
AU  - Allgood C
AD  - Department of Paediatrics, Campbelltown Hospital, Campbelltown, NSW, Australia ; 
      Department of Paediatrics, School of Medicine, University of Western Sydney, 
      Campbelltown, NSW, Australia.
FAU - Chin, Raymond
AU  - Chin R
AD  - Department of Paediatrics, Campbelltown Hospital, Campbelltown, NSW, Australia ; 
      Department of Paediatrics, School of Medicine, University of Western Sydney, 
      Campbelltown, NSW, Australia.
FAU - Santamaria, Jose
AU  - Santamaria J
AD  - Colbourne Pharmaceuticals GmbH, Viktoriaweg 7, 53859 Niederkassel, Germany ; 
      University of Cologne, Germany.
FAU - Wong, Flora
AU  - Wong F
AD  - Monash Newborn, Level 5, 246 Clayton Road, Clayton, Victoria 3168, Australia ; 
      The Ritchie Centre, Department of Paediatrics, Faculty of Medicine, Nursing and 
      Health Sciences, Monash University, Wellington Road, Clayton, Victoria 3800, 
      Australia.
FAU - Schwarz, Guenter
AU  - Schwarz G
AD  - Colbourne Pharmaceuticals GmbH, Viktoriaweg 7, 53859 Niederkassel, Germany ; 
      University of Cologne, Germany.
FAU - Whitehall, John
AU  - Whitehall J
AD  - Department of Paediatrics, Campbelltown Hospital, Campbelltown, NSW, Australia ; 
      Department of Paediatrics, School of Medicine, University of Western Sydney, 
      Campbelltown, NSW, Australia.
LA  - eng
PT  - Journal Article
DEP - 20150131
PL  - Netherlands
TA  - Meta Gene
JT  - Meta gene
JID - 101627670
PMC - PMC4329827
OTO - NOTNLM
OT  - MOCS2A
OT  - Metabolic encephalopathy
OT  - Molybdenum cofactor deficiency
EDAT- 2015/02/25 06:00
MHDA- 2015/02/25 06:01
PMCR- 2015/01/31
CRDT- 2015/02/25 06:00
PHST- 2014/06/22 00:00 [received]
PHST- 2014/12/03 00:00 [revised]
PHST- 2014/12/16 00:00 [accepted]
PHST- 2015/02/25 06:00 [entrez]
PHST- 2015/02/25 06:00 [pubmed]
PHST- 2015/02/25 06:01 [medline]
PHST- 2015/01/31 00:00 [pmc-release]
AID - S2214-5400(14)00081-4 [pii]
AID - 10.1016/j.mgene.2014.12.003 [doi]
PST - epublish
SO  - Meta Gene. 2015 Jan 31;3:43-9. doi: 10.1016/j.mgene.2014.12.003. eCollection 2015 
      Feb.