Document Detail


Familial very long chain acyl-CoA dehydrogenase deficiency as a cause of neonatal sudden infant death: Improved survival by prompt diagnosis.
MedLine Citation:
PMID:  25338548     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
In neonates, very long chain acyl-CoA dehydrogenase (VLCAD) deficiency is often characterized by cardiomyopathy, hepatic encephalopathy, or severe hypoketotic hypoglycemia, or a combination thereof. The purpose of this study was to further elucidate a familial VLCAD deficiency in three patients, two of whom died in the neonatal period. We report on a family with VLCAD deficiency. Acyl-carnitine profiles were obtained from dried blood spot and/or from oxidation of (13) C-palmitate by cultured skin fibroblasts. In the index patient, VLCAD deficiency was ascertained by enzyme activity measurement in fibroblasts and by molecular analysis of ACADVL. At 30 hr of life, the proband was diagnosed with hypoglycemia (1.77 mmol/L), rhabdomyolysis (CK: 12966 IU/L) and hyperlactacidemia (10.6 mmol/L). Acylcarnitine profile performed at 31 hr of life was consistent with VLCAD deficiency and confirmed by cultured skin fibroblast enzyme activity measurement. Molecular analysis of ACADVL revealed a homozygous splice-site mutation (1077 + 2T>C). The acyl-carnitine profile obtained from the sibling's original newborn screening cards demonstrated a similar, but less pronounced abnormal profile. In the proband, the initial metabolic crisis was controlled with 10% dextrose solution and oral riboflavin followed by specific diet (Basic-F and medium chain triglyceride (MCT). This clinical report demonstrates a familial history of repeated neonatal deaths explained by VLCAD deficiency, and the clinical evolution of the latest affected, surviving sibling. It shows that very early metabolic screening is an effective approach to avoid sudden unexpected death. © 2014 Wiley Periodicals, Inc.
Authors:
Emmanuel Scalais; Jean Bottu; Ronald J A Wanders; Sacha Ferdinandusse; Hans R Waterham; Linda De Meirleir
Related Documents :
19927408 - Death at work in america: pandemic, mostly unacknowledged.
12233958 - Fatal methadone toxicity: signs and circumstances, and the role of benzodiazepines.
13814508 - A study of diarrhoea-enteritis deaths in infants in manila, philippines. report of a jo...
25169458 - Challenges to measuring variation in readmission rates of neonatal intensive care patie...
10214608 - The relationship between caesarean section and neonatal mortality in very-low-birthweig...
20463428 - Meningococcal disease in infants: a potentially difficult and serious diagnosis.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-10-22
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2014 Oct 
Date Detail:
Created Date:  2014-10-23     Completed Date:  -     Revised Date:  2014-10-24    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 Wiley Periodicals, Inc.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Medullary colon cancer presenting with total necrosis of all regional lymph node metastases: morphol...
Next Document:  Whole grains beyond fibre: what can metabolomics tell us about mechanisms?