Medium-chain acyl coenzyme A dehydrogenase deficiency: Occurrence in an infant and his father

Archives of Neurology

Volumn 58, Issue 5, 2001, Pages 811-814

  Bodman, Marc ^a   Smith, David ^a   Nyhan, William L ^a   Naviaux, Robert K ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYLIC ACID; CARNITINE; DICARBOXYLIC ACID; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ACIDURIA; ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARNITINE DEFICIENCY; CASE REPORT; CAUCASIAN; CHILD; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE MUTATION; HOMOZYGOTE; HUMAN; HYPOGLYCEMIA; INTENSIVE CARE; MALE; PRIORITY JOURNAL; UNITED STATES;

EID: 0035024228     PISSN: 00039942     EISSN: None     Source Type: Journal    
DOI: 10.1001/archneur.58.5.811     Document Type: Article

References (10)

1. Medium chain acyl CoA dehydrogenase deficiency
2. Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis
3. The assay of (-)carnitine and its o-acyl derivatives
4. Measurement of carnitine and o-acylcarnitines
5. Identification of a common mutation in patients with medium-chain acyl-CoA dehydration deficiency
6. An unusual presentation of medium-chain acyl CoA dehydrogenase deficiency
7. Common MCAD mutation in a healthy parent of two affected siblings
8. Prevalence of carriers of the most common medium-chain acyl CoA dehydrogenase (MCAD) deficiency mutation (G985A) in the Netherlands
9. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the U.K.
10. High risk of medium chain acylcoenzyme A dehydrogenase deficiency among gypsies