2-Methylbutyryl-CoA dehydrogenase deficiency in hmong infants identified by expanded newborn screen

Wisconsin Medical Journal

Volumn 106, Issue 1, 2007, Pages 12-15

  Van Calcar, Sandra C ^a   Gleason, Linda A ^a   Lindh, Heidi ^a   Hoffman, Gary ^b   Rhead, William ^c   Vockley, Gerard ^d   Wolff, Jon A ^a   Durkin, Maureen S ^a,e  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b WISCONSIN STATE LABORATORY OF HYGIENE   (United States)

^c CHILDREN S HOSPITAL OF WISCONSIN   (United States)

^d CHILDREN S HOSPITAL OF PITTSBURGH   (United States)

^e UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2 METHYLBUTYRYL COENZYME A DEHYDROGENASE; ACYLCARNITINE; BUTYRYL COENZYME A DEHYDROGENASE; ISOLEUCINE; ISOVALERIC ACID; UNCLASSIFIED DRUG;

ACIDEMIA; AMINO ACID METABOLISM; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; HUMAN; INBORN ERROR OF METABOLISM; ISOVALERIC ACIDEMIA; NEWBORN; NEWBORN SCREENING; TANDEM MASS SPECTROMETRY;

AMINO ACID METABOLISM, INBORN ERRORS; CARNITINE; ETHNIC GROUPS; HUMANS; INFANT, NEWBORN; MASS SPECTROMETRY; NEONATAL SCREENING; OXIDOREDUCTASES ACTING ON CH-CH GROUP DONORS; VIETNAM; WISCONSIN;

EID: 33847168609     PISSN: 10981861     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (7)

1. Gibson KM, Sacks M, Kiss D, et al. 2-methylbutyrylglycinuria in a neonate with CNS dysfunction: evidence for isolated 2-methylbutyryl-CoA dehydrogenase deficiency, an inborn error of L-isoleucine metabolism. J Inherit Metab Dis. 1999;22(suppl 1):16.
2. Gibson KM, Burlingame TG, Hogema B, et al. 2-methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism. Pediatr Res. 2000;47(6):830-833.
3. Akaboshi S, Ruiters J, Wanders RJA, Andresen BS, Steiner RD, Gibson KM. Divergent phenotypes in siblings with confirmed 2-methylbutyryl-CoA dehydrogenase (2-MBAD) deficiency. J Inherit Metab Dis. 2001;(suppl 1):58.
4. 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.
5. Matern D, He M, Berry SA, et al. Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics. 2003;112(1):74-78.
6. Korman SH, Andresen BS, Zeharia A, Gutman A, Boneh A, Pitt JJ. 2-ethylhydracrylic aciduria in short/branched-chain acyl-CoA dehydrogenase deficiency: application to diagnosis and implications for the R-pathway of isoleucine oxidation. Clin Chem. 2005;51(3):1-8.
7. Chan SC (ed). Hmong Means Free: Life in Laos and America. Temple University Press; 1995.