Linked Life Data

8120710

Source:http://linkedlifedata.com/resource/pubmed/id/8120710

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1994-4-7
pubmed:abstractText
Medium-chain acyl-coenzyme A dehydrogenase deficiency is an autosomal recessive disorder of beta-oxidation of fatty acids manifested by episodic hypoglycemia, encephalopathy, apnea, and sudden death. Medical data were obtained on 120 patients with medium-chain acyl-coenzyme A dehydrogenase deficiency referred to Duke University Medical Center for biochemical testing. There were 55 male and 65 female subjects ranging from birth to 19 years of age; 118 subjects were white. Twenty-three children (19%) died before the diagnosis was made. Follow-up data were available in the 97 surviving patients for an average of 2.6 years after diagnosis. Psychodevelopmental data were collected on 73 patients older than 2 years of age. Unexpected morbidity included developmental and behavioral disability, chronic muscle weakness, failure to thrive, and cerebral palsy. We conclude that unidentified patients with this disorder have a significant risk of sudden death in early childhood and that survivors have a significant risk of developmental disability and chronic somatic illness.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
0022-3476
pubmed:author
pubmed:issnType
Print
pubmed:volume
124
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
409-15
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1994
pubmed:articleTitle
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children.
pubmed:affiliation
Division of Genetics and Metabolism, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't