Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency

Journal of Inherited Metabolic Disease

Volumn 24, Issue 3, 2001, Pages 417-418

  Albers, S ^a   Levy, H L ^b   Irons, M ^b   Strauss, A W ^c   Marsden, D ^d  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c VANDERBILT UNIVERSITY   (United States)

^d UNIVERSITY OF MASSACHUSETTS BOSTON   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; ARGININE; CARNITINE DERIVATIVE; CYTOSINE; FATTY ACID; GLUTAMIC ACID; GLYCINE DERIVATIVE; GUANINE; LYSINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; ENZYME DEFICIENCY; FATTY ACID BLOOD LEVEL; FEMALE; GENE MUTATION; GENOTYPE; HETEROZYGOSITY; HUMAN; MALE; NEWBORN; PARENT; SIBLING; SYMPTOMATOLOGY; URINALYSIS;

ACYL-COA DEHYDROGENASES; CARNITINE; CHILD; CHILD, PRESCHOOL; DICARBOXYLIC ACIDS; DNA MUTATIONAL ANALYSIS; FEMALE; GLYCINE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MUTATION; NEONATAL SCREENING; OCTANOIC ACIDS;

EID: 0034924838     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010533408635     Document Type: Article

References (3)

1. A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD)
2. Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
3. Is the G985A allelic variant of medium-chain acyl-CoA dehydrogenase a risk factor for sudden infant death syndrome? A pooled analysis