1
40
1
-
Text
A resource consisting primarily of words for reading. Examples include books, letters, dissertations, poems, newspapers, articles, archives of mailing lists. Note that facsimiles or images of texts are still of the genre Text.
Citation List Month
Backlog
URL Address
<a href="http://doi.org/10.1136/adc.70.5.410" target="_blank" rel="noreferrer">http://doi.org/10.1136/adc.70.5.410</a>
Dublin Core
The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/.
Title
A name given to the resource
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency
Publisher
An entity responsible for making the resource available
Archives Of Disease In Childhood
Date
A point or period of time associated with an event in the lifecycle of the resource
1994
Subject
The topic of the resource
Child; Humans; infant; Prognosis; Incidence; Morbidity; adolescent; Preschool; infant; Q3 Literature Search; Newborn; Lipid Metabolism; Acyl-CoA Dehydrogenase; New South Wales/epidemiology; Deficiency Diseases/epidemiology; Fatty Acid Desaturases/deficiency; Hemiplegia/complications; Inborn Errors/epidemiology/mortality
Creator
An entity primarily responsible for making the resource
Wilcken B; Hammond J; Silink M
Description
An account of the resource
Medium chain acyl coenzyme A dehydrogenase (MCAD) deficiency presents with episodic fasting, hypoketotic hypoglycaemia, and coma. It is known to be potentially lethal, but the outlook for survivors is thought to be good. We reassessed all patients with MCAD deficiency diagnosed in New South Wales (population six million) to explore long term morbidity and mortality. There were 16 probands and two siblings were confirmed and two presumed to be affected. Assuming an incidence of 1:20,000 births, these represented about 22% of the total number of expected cases. Five (25%) of the 20 patients died aged 3 days-30 months, all during the first episode of illness. Seven others had only one episode and one affected sibling was asymptomatic. Eight had had significant neonatal symptoms. Only two had a significant, serious life threatening episode after diagnosis. Of 15 survivors, one has severe handicap after a single severe episode, and four, aged 9-17 years, have mild intellectual handicap. Eight (including six aged less than 7 years), have apparently normal development. Two are lost to follow up. Our study of unselected patients with MCAD deficiency from a defined population shows not only a substantial risk of death, but also of long term morbidity.
1994
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1136/adc.70.5.410" target="_blank" rel="noreferrer">10.1136/adc.70.5.410</a>
Rights
Information about rights held in and over the resource
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Type
The nature or genre of the resource
Journal Article
1994
Acyl-CoA Dehydrogenase
Adolescent
Archives of Disease in Childhood
Backlog
Child
Deficiency Diseases/epidemiology
Fatty Acid Desaturases/deficiency
Hammond J
Hemiplegia/complications
Humans
Inborn Errors/epidemiology/mortality
Incidence
Infant
Journal Article
Lipid Metabolism
Morbidity
New South Wales/epidemiology
Newborn
Preschool
Prognosis
Q3 Scoping Review Results
Silink M
Wilcken B