Molecular and functional characterisation of mild MCAD deficiency

Human Genetics

Volumn 108, Issue 5, 2001, Pages 404-408

  Zschocke, J ^a   Schulze, A ^a   Lindner, M ^a   Fiesel, S ^a   Olgemoller K ^a   Hoffman, G F ^a   Penzien, J ^a   Ruiter, J P N ^a   Wanders, R J A ^a   Mayatepek, E ^a  

^a UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACID; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; PHENYLPROPIONIC ACID DERIVATIVE;

ARTICLE; BLOOD LEVEL; CASE REPORT; CHILD; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; INFANT; LOADING TEST; MEDIUM-CHAIN ACYL COENZYME A DEHYDROGENASE DEFICIENCY; METABOLIC DISORDER; MOLECULAR BIOLOGY; NEWBORN SCREENING; PRIORITY JOURNAL; SPECTRUM OF CONGENITAL DEFECTS;

ACYL-COA DEHYDROGENASE; ACYL-COA DEHYDROGENASES; CARNITINE; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; FIBROBLASTS; GERMANY; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT; LYMPHOCYTES; MALE; MUTATION; MUTATION, MISSENSE; PHENYLPROPIONATES; PROTEIN PROCESSING, POST-TRANSLATIONAL; TURKEY; VARIATION (GENETICS);

EID: 17844379219     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390100501     Document Type: Article

References (13)

1. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?
2. Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
3. The phenylpropionic acid load test: Experience with 72 children at risk for beta-oxidation disorders
4. Quantitative analysis for organic acids in biological samples: Batch isolation followed by gas chromatographic-mass spectrometric analysis
5. Experience with the 3-phenylpropionic acid loading test for diagnosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD)
6. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
7. Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry
8. A simple screening test for medium-chain acyl CoA dehydrogenase deficiency
9. Sensitivity of electrospray-tandem mass spectrometry using the phenylalanine/tyrosine-ratio for differential diagnosis of hyperphenylalaninemia in neonates
10. Regional variations in medium-chain acyl-CoA dehydrogenase-deficiency
11. A survey of the newborn population in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium-chain acyl-CoA dehydrogenase gene locus: Clinical and evolutionary considerations
12. Disorders of mitochondrial fatty acyl-CoA beta-oxidation
13. 985A-to-G transition, and identification of five infrequent mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency