Linked Life Data

17508264

Source:http://linkedlifedata.com/resource/pubmed/id/17508264

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2007-10-10
pubmed:abstractText
Carnitine-acylcarnitine translocase (CACT) deficiency is a rare disorder that results in long-chain fatty acids being unavailable for mitochondrial beta-oxidation and ketogenesis. It can present in the neonatal period or infancy with a severe clinical form, typically with convulsions, hypothermia, encephalopathy, cardiomyopathy and liver dysfunction, or with a milder phenotype with episodes of hypoglycaemia and hyperammonaemia during intercurrent illness. Investigations show hypoketonaemia, intermittent dicarboxyluria and hypocarnitinaemia with grossly elevated acylcarnitines. Enzyme assay or DNA analysis confirms the diagnosis. The severe phenotype results in severe disability or death. The less severe phenotype can also cause significant disability secondary to hypoglycaemia and/or hyperammonaemia at presentation. We report the outcome of two siblings with CACT deficiency. The index patient presented at the age of 2 months during a respiratory illness with hypoglycaemia, hyperammonaemia and cardiorespiratory collapse. Acylcarnitine profiles showed decreased free carnitine but striking elevations of long-chain acylcarnitines. Urine organic acids showed dicarboxylic aciduria. Fatty acid oxidation studies showed reduced oleate and myristate oxidation. His acylcarnitine profile normalized after he was started on a medium-chain triglyceride (MCT) low-fat diet and carnitine supplementation. Low CACT activity on enzyme assay confirmed the diagnosis. He has resulting profound developmental delay and epilepsy. The sibling was prospectively treated with a low-fat MCT diet and carnitine supplementation. Acylcarnitine profile at birth also showed elevated long-chain acylcarnitines. Fatty acid oxidation studies confirmed the diagnosis. To date he has normal development and has not had any significant periods of hypoglycaemia or hyperammonaemia.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1573-2665
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
30
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
815
pubmed:meshHeading
pubmed-meshheading:17508264-Carnitine, pubmed-meshheading:17508264-Carnitine Acyltransferases, pubmed-meshheading:17508264-Dicarboxylic Acids, pubmed-meshheading:17508264-Diet, Fat-Restricted, pubmed-meshheading:17508264-Dietary Supplements, pubmed-meshheading:17508264-Fatty Acids, pubmed-meshheading:17508264-Humans, pubmed-meshheading:17508264-Hyperammonemia, pubmed-meshheading:17508264-Hypoglycemia, pubmed-meshheading:17508264-Infant, pubmed-meshheading:17508264-Male, pubmed-meshheading:17508264-Membrane Transport Proteins, pubmed-meshheading:17508264-Metabolism, Inborn Errors, pubmed-meshheading:17508264-Oxidation-Reduction, pubmed-meshheading:17508264-Pedigree, pubmed-meshheading:17508264-Phenotype, pubmed-meshheading:17508264-Severity of Illness Index, pubmed-meshheading:17508264-Treatment Outcome
pubmed:year
2007
pubmed:articleTitle
Prospective treatment in carnitine-acylcarnitine translocase deficiency.
pubmed:affiliation
Department of Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK. marsha2000_tt@yahoo.com
pubmed:publicationType
Journal Article, Case Reports