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Text
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URL Address
<a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">http://doi.org/10.1016/j.jpeds.2005.12.028</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
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The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
Publisher
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The Journal Of Pediatrics
Date
A point or period of time associated with an event in the lifecycle of the resource
2006
Subject
The topic of the resource
Child; Humans; infant; Cohort Studies; Adult; Prognosis; Middle Aged; Disease Progression; Netherlands; Severity of Illness Index; Longitudinal Studies; adolescent; Preschool; infant; Newborn; retrospective studies; Acyl-CoA Dehydrogenase/deficiency/genetics; Mutation/genetics; Metabolism; Inborn Errors/complications/diagnosis/genetics
Creator
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Derks TG; Reijngoud DJ; Waterham HR; Gerver WJ; van den Berg MP; Sauer PJ; Smit GP
Description
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OBJECTIVES: To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. STUDY DESIGN: A nationwide, retrospective analysis of clinical presentation and follow-up in 155 Dutch patients with MCAD deficiency. RESULTS: Most patients presented between 3 months and 5.1 years of age; 13% had symptoms as neonates not exclusively related to breast-feeding. An acute presentation before the diagnosis was made resulted in a mortality of 22% (25/114), whereas 21% (19/89) developed disabilities after the diagnosis. On follow-up, a total of 44 patients reported fatigue (35%; 28/80), muscle pain (31%; 25/80), and/or reduced exercise tolerance (39%; 31/80). Cardiac evaluation in 11 adult patients revealed no abnormalities in cardiac function explaining these complaints. Children with MCAD deficiency readily become overweight. CONCLUSIONS: Mortality and morbidity were high in undiagnosed children with MCAD deficiency; establishment of the diagnosis significantly improves outcome. Strikingly, after the diagnosis and initiation of treatment, overweight and chronic complaints (fatigue, muscle pain, and reduced exercise tolerance) were prominent.
2006
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1016/j.jpeds.2005.12.028" target="_blank" rel="noreferrer">10.1016/j.jpeds.2005.12.028</a>
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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
2006
Acyl-CoA Dehydrogenase/deficiency/genetics
Adolescent
Adult
Backlog
Child
Cohort Studies
Derks TG
Disease Progression
Gerver WJ
Humans
Inborn Errors/complications/diagnosis/genetics
Infant
Journal Article
Longitudinal Studies
Metabolism
Middle Aged
Mutation/genetics
Netherlands
Newborn
Preschool
Prognosis
Reijngoud DJ
Retrospective Studies
Sauer PJ
Severity Of Illness Index
Smit GP
The Journal Of Pediatrics
van den Berg MP
Waterham HR
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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.
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<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">http://doi.org/10.1002/ajmg.a.31841</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
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Progressive cerebral vascular degeneration with mitochondrial encephalopathy
Publisher
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American Journal Of Medical Genetics.Part A
Date
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2008
Subject
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Child; Female; Humans; Cerebrovascular Circulation; Q3 Literature Search; Acyl-CoA Dehydrogenase/deficiency/genetics; Brain/blood supply/physiopathology; Leu/genetics; Magnetic Resonance Angiography; MELAS Syndrome/ge [Genetics]; Point Mutation; RNA; Transfer
Creator
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Longo N; Schrijver I; Vogel H; Pique LM; Cowan TM; Pasquali M; Steinberg GK; Hedlund GL; Ernst SL; Gallagher RC; Enns GM
Description
An account of the resource
MELAS (mitochondrial encephalopathy with lactic acidosis and stroke-like episodes) is a maternally inherited disorder characterized by recurrent cerebral infarctions that do not conform to discreet vascular territories. Here we report on a patient who presented at 7 years of age with loss of consciousness and severe metabolic acidosis following vomiting and dehydration. She developed progressive sensorineural hearing loss, myopathy, ptosis, short stature, and mild developmental delays after normal early development. Biochemical testing identified metabolites characteristic of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency (hexanoylglycine and suberylglycine), but also severe lactic acidemia (10-25 mM) and, in urine, excess of lactic acid, intermediates of the citric cycle, and marked ketonuria, suggesting mitochondrial dysfunction. She progressed rapidly to develop temporary cortical blindness. Brain imaging indicated generalized atrophy, more marked on the left side, in addition to white matter alterations consistent with a mitochondrial disorder. Magnetic resonance angiography indicated occlusion of the left cerebral artery with development of collateral circulation (Moyamoya syndrome). This process worsened over time to involve the other side of the brain. A muscle biopsy indicated the presence of numerous ragged red fibers. Molecular testing confirmed compound heterozygosity for the common mutation in the MCAD gene (985A>G) and a second pathogenic mutation (233T>C). MtDNA testing indicated that the muscle was almost homoplasmic for the 3243A>T mutation in tRNALeu, with a lower mutant load (about 50% heteroplasmy) in blood and skin fibroblasts. These results indicate that mitochondrial disorders may be associated with severe vascular disease resulting in Moyamoya syndrome. The contribution of the concomitant MCAD deficiency to the development of the phenotype in this case is unclear.
2008
Identifier
An unambiguous reference to the resource within a given context
<a href="http://doi.org/10.1002/ajmg.a.31841" target="_blank" rel="noreferrer">10.1002/ajmg.a.31841</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
2008
Acyl-CoA Dehydrogenase/deficiency/genetics
American Journal Of Medical Genetics.Part A
Backlog
Brain/blood supply/physiopathology
Cerebrovascular Circulation
Child
Cowan TM
Enns GM
Ernst SL
Female
Gallagher RC
Hedlund GL
Humans
Journal Article
Leu/genetics
Longo N
Magnetic Resonance Angiography
MELAS Syndrome/ge [Genetics]
Pasquali M
Pique LM
Point Mutation
Q3 Scoping Review Results
RNA
Schrijver I
Steinberg GK
Transfer
Vogel H