Prospective diagnosis of 2-Methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry

Pediatrics

Volumn 112, Issue 1 I, 2003, Pages 74-78

  Matern, Dietrich ^a,b   He, Miao ^b   Berry, Susan A ^c   Rinaldo, Piero ^a,b   Whitley, Chester B ^c   Madsen, Pia P ^d   Van Calcar, Sandra C ^e   Lussky, Richard C ^f   Andresen, Brage S ^d   Wolff, Jon A ^e   Vockley, Jerry ^b  

^a Dept of Lab Medicine and Pathology ^*  (United States)

^b MAYO CLINIC   (United States)

^c UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^d AARHUS UNIVERSITY   (Denmark)

^e UNIVERSITY OF WISCONSIN MADISON   (United States)

^f HENNEPIN COUNTY MEDICAL CENTER   (United States)

Author keywords

2 Methylbutyryl CoA dehydrogenase deficiency; ACADSB; Founder effect; Hmong; L isoleucine; Newborn screening; SBCAD; Short branched chain acyl CoA dehydrogenase deficiency; Tandem mass spectrometry

Indexed keywords

2 METHYLBUTYRYL COENZYME A DEHYDROGENASE; 2 METHYLBUTYRYLGLYCINE; ACYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; CARBOXYLIC ACID; CARNITINE; GLYCINE DERIVATIVE; ISOLEUCINE; ISOVALERYLGLYCINE; MAGNESIUM SULFATE; TERBUTALINE; UNCLASSIFIED DRUG;

2 METHYLBUTYRYL COENZYME A DEHYDROGENASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CEREBRAL PALSY; CHINA; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; DIET THERAPY; ENZYME DEFICIENCY; FOLLOW UP; HUMAN; INBORN ERROR OF METABOLISM; MOLECULAR GENETICS; MOTOR DEVELOPMENT; MUSCLE ATROPHY; MUSCLE HYPOTONIA; NEWBORN; NEWBORN SCREENING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTEIN RESTRICTION; SIBLING; TANDEM MASS SPECTROMETRY; WESTERN BLOTTING;

AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; DIAGNOSIS, DIFFERENTIAL; DIET, PROTEIN-RESTRICTED; DNA MUTATIONAL ANALYSIS; ETHNIC GROUPS; EXONS; FEMALE; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; ISOLEUCINE; MALE; MASS SPECTROMETRY; MENTAL RETARDATION; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; SEQUENCE DELETION; TREATMENT OUTCOME;

EID: 0038757594     PISSN: 00314005     EISSN: None     Source Type: Journal    
DOI: 10.1542/peds.112.1.74     Document Type: Article

References (14)

1. Arden KC, Viars CS, Fu K, Rozen R. Localization of short/branched chain acyl-CoA dehydrogenase (ACADSB) to human chromosome 10. Genomics. 1995;25:743-745
2. Rozen R, Vockley J, Zhou L, et al. Isolation and expression of a cDNA encoding the precursor for a novel member (ACADSB) of the acyl-CoA dehydrogenase gene family. Genomics. 1994;24:280-287
3. Andresen BS, Christensen E, Corydon TJ, et al. Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism. Am J Hum Genet. 2000;67:1095-1103
4. Gibson KM, Burlingame TG, Hogema B, et al. 2-Methylbutyrylcoenzyme A dehydrogenase deficiency: a new inborn error of Lisoleucine metabolism. Pediatr Res. 2000;47:830-833
5. Akaboshi S, Ruiters J, Wanders RJA, Andresen BS, Steiner RD, Gibson KM. Divergent phenotypes in siblings with confirmed 2-methytbutyryl-CoA dehydrogenase (2-MBCD) deficiency. J Inherit Metab Dis. 2001;24(suppl 1):58
6. Chace DH, DiPerna JC, Mitchell BL, Sgroi B, Hofman LF, Naylor EW. Electrospray tandem mass spectrometry for analysis of acylcamitines in dried postmortem blood specimens collected at autopsy from infants with unexplained cause of death. Clin Chem. 2001;47:1166-1182
7. Sweetman L. Organic acid analysis. In: Hommes FA, ed. Techniques in Diagnostic Human Biochemical Genetics. New York, NY: Wiley-Liss; 1991:143-176
8. Rinaldo P, O'Shea JJ, Coates PM, Hale DE, Stanley CA, Tanaka K. Medium-chain acyl-CoA dehydrogenase deficiency. Diagnosis by stable-isotope dilution measurement of urinary n-hexanoylglycine and 3-phenylpropionylglycine. N Engl J Med. 1988;319:1308-1313
9. Raymond K, Bale AE, Bames CA, Rinaldo P. Medium-chain acyl-CoA dehydrogenase deficiency: sudden and unexpected death of a 45 year old woman. Genet Med. 1999;1:293-294
10. Matern D. Tandem mass spectrometry in newborn screening. Endocrinologist. 2002;12:50-57
11. Abdenur JE, Chamoles NA, Guinle AE, Schenone AB, Fuertes AN. Diagnosis of isovaleric acidaemia by tandem mass spectrometry: false positive result due to pivaloylcarnitine in a newborn screening programme. J Inherit Metab Dis. 1998;21:624-630
12. Quincy K. Hmong: History of a People. 2nd ed. Cheney, WA: Eastern Washington University Press; 1997
13. US Bureau of the Census. United States Census 2000. Washington, DC: US Bureau of the Census, US Department of Commerce; 2000
14. US Census 2000: Trends in Hmong Population Across the Regions of the United States. Research Report. St Paul, MN: Hmong Resource Center of the Hmong Cultural Center; 2000