Medium-chain acyl-CoA dehydrogenase (MCAD) mutations identified by MS/MS-based prospective screening of newborns differ from those observed in patients with clinical symptoms: Identification and characterization of a new, prevalent mutation that results in mild MCAD deficiency

American Journal of Human Genetics

Volumn 68, Issue 6, 2001, Pages 1408-1418

  Andresen, Brage Storstein ^a,b   Dobrowolski, Steve F ^c   O’ Reilly, Linda ^d   Muenzer, Joseph ^e   McCandless, Shawn E ^e   Frazier, Dianne M ^e   Udvari, Szabolcs ^d   Bross, Peter ^a   Knudsen, Inga ^a   Banas, Rick ^c   Chace, Donald H ^c   Engel, Paul ^d   Gregersen, Niels ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b AARHUS UNIVERSITY   (Denmark)

^c Neo Gen Screening   (United States)

^d UNIVERSITY COLLEGE DUBLIN   (Ireland)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACYLCARNITINE; MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ALLELE; ARTICLE; CLINICAL OBSERVATION; CONTROLLED STUDY; DIAGNOSTIC VALUE; ENZYME DEFICIENCY; FATTY ACID OXIDATION; GENE FREQUENCY; GENE MUTATION; GENE OVEREXPRESSION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PHENOTYPE; PREVALENCE; PRIORITY JOURNAL; SYMPTOMATOLOGY; TANDEM MASS SPECTROMETRY;

EID: 0034985656     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/320602     Document Type: Article

References (35)

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. The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: Is there correlation between genotype and phenotype?
3. Molecular genetic validation of the tandem MS method used for newborn screening for MCAD deficiency
4. The mutational spectrum in the MCAD gene of newborns identified by prospective tandem MS screening for "diagnostic" acyl-carnitines in blood spots differs from that observed in clinically affected patients
5. A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene
6. Rett syndrome in a patient with medium chain acyl-CoA dehydrogenase deficiency
7. Impaired folding and subunit assembly as disease mechanism: The example of medium-chain acyl-CoA dehydrogenase deficiency
8. Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-Coa dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation
9. Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme
10. Rapid diagnosis of MCAD deficiency: Quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry
11. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry
12. Heterozygosity for the common LCHAD mutation (1528G→C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low
13. Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene
14. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: The prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe
15. Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele
16. Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children
17. A fetal fatty-acid oxidation disorder as a cause of liver disease in pregnant women
18. Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency
19. Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate
20. An acyl-coenzyme A dehydrogenase assay utilizing the ferricenium ion
21. Tandem-MS newborn screening detects mild MCAD deficiency with negative phenylpropionic acid test
22. An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency
23. Prevalence of the K329E mutation in the medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards
24. Tandem mass spectrometry newborn screening for medium-chain acyl-CoA dehydrogenase deficiency in North Carolina
25. Prospective surveillance study of medium chain acyl-CoA dehydrogenase deficiency in the UK
26. Medium-chain acyl-CoA dehydrogenase deficiency: Diagnosis by stable isotope dilution analysis of urinary n-hexanoylglycine and 3-phenylpropionylglycine
27. Mitochondrial fatty acid oxidation disorders
28. Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency
29. A survey of the newborn populations 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 consideration
30. Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: Diagnosis by acylcarnitine analysis in blood
31. Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency
32. Identification of a novel mutation in patients with medium-chain acyl-CoA dehydrogenase deficiency
33. 985A-to-G transition, and identification of five infrequent mutations in the medium-chain acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency
34. Structural organization and regulatory regions of the human medium-chain acyl-CoA dehydrogenase gene
35. Medium-chain acyl-CoA dehydrogenase deficiency in Pennsylvania: Neonatal screening shows high incidence and unexpected mutation frequencies