A severe genotype with favourable outcome in very long chain acyl-CoA dehydrogenase deficiency

Archives of Disease in Childhood

Volumn 84, Issue 1, 2001, Pages 58-60

  Touma, E H ^a   Rashed, M S ^b   Vianey Saban, C ^c   Sakr, A ^d   Divry, P ^c   Gregersen, N ^e   Andresen, B S ^e  

^a SAINT JOSEPH UNIVERSITY   (Lebanon)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c HÔPITAL DEBROUSSE   (France)

^d Analytical Testing Laboratory   (Lebanon)

^e AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Cardiomyopathy; Fatty acids; Mass spectrometry; Newborn screening

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARNITINE; MEDIUM CHAIN TRIACYLGLYCEROL;

ARTICLE; CARDIOMYOPATHY; CASE REPORT; DIET THERAPY; ENZYME ACTIVITY; ENZYME DEFICIENCY; FAT INTAKE; GENOTYPE; HUMAN; INFANT; MALE; PRIORITY JOURNAL;

ACYL-COA DEHYDROGENASE, LONG-CHAIN; CARDIOMYOPATHIES; FOLLOW-UP STUDIES; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MASS SPECTROMETRY; MUTATION; PROGNOSIS;

EID: 0035175317     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.84.1.58     Document Type: Article

References (6)

1. Very-long-chain acyl-CoA dehydrogenase deficiency: Identification of a new inborn error of mitochondrial fatty acid oxidation in fibroblasts
2. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase
3. Identification of very-long-chain acyl-CoA dehydrogenase deficiency in three patients previously diagnosed with long-chain acyl-CoA dehydrogenase deficiency
4. Determination of total fatty acids in plasma: Cis-5-tetradecenoic acid (C14:1ω9) in the diagnosis of long-chain fatty acid oxidation defects
5. Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: Clinical characteristics and diagnostic considerations in 30 patients
6. Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency