Medium chain Acyl-CoA dehydrogenase deficiency in pennsylvania:Neonatal screening shows highincidence and unexpected mutation frequencies

Pediatric Research

Volumn 37, Issue 5, 1995, Pages 675-678

  Ziadeh, Rana ^a   Hoffman, Eric P ^b   Finegold, David N ^c   Hoop, Rita C ^f   Brackett, Jeffrey C ^d   Strauss, Arnold W ^d   Naylor, Edwin W ^a,e  

^a Departments of Human Genetics   (United States)

^b Human Genetics and Pediatrics ^*  (United States)

^c CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Neo Gen Screening Inc   (United States)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

MEDIUM CHAIN ACYL COENZYME A DEHYDROGENASE;

ARTICLE; CHROMOSOME 1; CLINICAL FEATURE; DELETION MUTANT; ENZYME DEFICIENCY; FATTY ACID OXIDATION; FEMALE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; MASS SCREENING; MUTATION RATE; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; SINGLE STRAND CONFORMATION POLYMORPHISM;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARNITINE; COHORT STUDIES; DNA; FATTY ACID DESATURASES; FEMALE; GENE DELETION; GENETIC SCREENING; HETEROZYGOTE; HUMAN; INCIDENCE; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PENNSYLVANIA; PROSPECTIVE STUDIES; SUPPORT, U.S. GOV'T, P.H.S.;

EID: 0028899006     PISSN: 00313998     EISSN: 15300447     Source Type: Journal    
DOI: 10.1203/00006450-199505000-00021     Document Type: Article

References (15)

1. Gregersen N, Lauritzen R, Rasmussen K 1976 Suberylglycine excretion in the urine from a patient with dicarboxylic aciduria. Clin Chem Acta 70:417-25
2. Kolvraa S, Gregersen N, Christensen E, Hoboth N 1982 In vitro fibroblast studies in a patient with C6-C10-dicarboxylic aciduria, evidence for a defect in general acyl-CoA dehydrogenase. Clin Chem Acta 126:53-67
3. Matsubara Y, Kraus JP, Ozasa H, Glassberg R, Finocchiaro G, Ikeda Y, Mole J, Rosenberg LE, Tanaka K 1987 Molecular cloning and nucleotide sequence of cDNA encoding the entire precursor of rat liver medium chain acyl coenzyme A dehydrogenase. J Biol Chem 262:10104-10108
4. Ikeda Y, Hale DE, Keese SM, Coates PM, Tanaka K 1986 Biosynthesis of variant medium chain acyl CoA dehydrogenase in cultured fibroblasts from patients with MCAD deficiency. Pediatr Res 20:843-847
5. Kelly PD, Whelan JA, Ogden LM, Alpers R, Zhang Z, Bellus G, Gregersen N, Doriand L, Strauss AW 1990 Molecular characterization of inherited medium chain acyl Co-A dehydrogenase deficiency. Proc Natl Acad Sci USA 87:9236-9240
6. Blakemore AIF, Singelton H, Pollitt RJ, Engel P, Kolvraa S, Gregersen N, Curtis D 1991 Frequency of the G985 MCAD mutation in the general population. Lancet 337:298-299
7. Matsubara Y, Narisawa K, Tada K, Ikeda H, Ye-Qi Y, Danks DM, Greene A, McCabe ERB 1991 Prevalance of K329E mutation in MCAD gene determined from Gutherie cards. Lancet 338:552-553
8. Ding JH, Yang BZ, Bao Y, Roe CR, Chen YT 1992 Identification of a new mutation in MCAD deficiency. Am J Hum Genet 50:229-233
9. Millington DS, Roe CR, Maltby DA 1984 Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to identification and analysis of acylcarnitines in metabolic disease. Biomed Mass Spectrom 11:236-241
10. Van Hove JLK, Zhang W, Kahler SG, Roe CR, Chen YT, Terada N, Chace DH, Iafolla AK, Ding JH, Millington DS 1993 Medium chain acyl CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. Am J Hum Genet 52:958-966
11. Higuchi R 1989 Rapid efficient DNA extraction for PCR from cells or blood. In: Amplifications—A Forum for PCR Users (Issue 2). Cetus Corp., Emeryville, CA
12. Yokota I, Indo Y, Coates PM, Tanaka K 1990 Molecular basis of medium chain acyl coenzyme A dehydrogenase deficiency: an A to G transition at position 985 that causes a lysine-304 to glutamate substitution in the mature protein is the single prevalent mutation. J Clin Invest 86:1000-1003
13. Zhang Z, Kelly DP, Kim JJ, Zhou Y, Whelan AJ, Strauss AW 1992 Structural organization and regulatory regions of the human medium chain acyl CoA dehydrogenase gene. Biochemistry 31:81-89
14. Orita M, Iwashana H, Kanazawa H, Hayashi K, Sekiya T 1989 Detection of polymorphisms of human DNA by gel electrophoresis as single strand conformation polymorphisms. Proc Natl Acad Sci USA 86:2770-2774
15. Kim J-JP, Wang M, Paschke R 1993 Crystal structures of medium chain acyl CoA dehydrogenase from pig liver mitochondria with and without substrate. Proc Natl Acad Sci USA 90:7523-7527