Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina

Molecular Genetics and Metabolism

Volumn 88, Issue 1, 2006, Pages 90-92

  Basinger, Alice A ^a   Booker, Jessica K ^a   Frazier, Dianne M ^a   Koeberl, Dwight D ^b   Sullivan, Jennifer A ^b   Muenzer, Joseph ^a  

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

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Glutaric academia type 1; Inborn error of metabolism; Lumbee; Mutation analysis; Newborn screening

Indexed keywords

GLUTARYL COENZYME A DEHYDROGENASE; HYDROXYLYSINE; LYSINE; TRYPTOPHAN;

ADOLESCENT; ADULT; AMERICAN INDIAN; AMINO ACID METABOLISM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME DEFICIENCY; ETHNIC GROUP; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GLUTARIC ACIDEMIA TYPE 1; HOMOZYGOSITY; HUMAN; HUMAN CELL; INBORN ERROR OF METABOLISM; MALE; MUTAGENESIS; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; AMINO ACID SUBSTITUTION; CHILD; CHILD, PRESCHOOL; ETHNIC GROUPS; FEMALE; GLUTARATES; GLUTARYL-COA DEHYDROGENASE; HUMANS; INDIANS, NORTH AMERICAN; INFANT; INFANT, NEWBORN; MALE; NEONATAL SCREENING; NORTH CAROLINA;

EID: 33646036699     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2005.12.008     Document Type: Article

References (15)

1. Hoffmann G.F., and Zschocke J. Glutaric aciduria type I: from clinical, biochemical, and molecular diversity to successful therapy. J. Inherit. Metab. Dis. 22 (1999) 381-391
2. Funk C.B.R., Prasad A.N., Frosk P., Sauer S., Kolker S., Greenberg C.R., and Del Bigio M.R. Neuropathological, biochemical, and molecular findings in a glutaric acidemia type 1 cohort. Brain 128 (2005) 711-722
3. Strauss K.A., Puffenberger E.G., Robinson D.L., and Holmes Morton D. Type I glutaric acidemia, part I: natural history of 77 patients. Am. J. Med. Genet, Part C (Semin. Med. Genet.) 121C (2003) 38-52
4. Christensen E., Ribes A., Merinero B., and Zschocke J. Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency. J. Inherit. Metab. Dis. 27 (2004) 861-868
5. Biery B.J., Stein D.E., Holmes Morton D., and Goodman S.I. Gene structure and mutations of glutaryl-enzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am. J. Hum. Genet. 59 (1996) 1006-1011
6. Greenberg C.R., Reimer D., Singal R., Triggs-Raine B., Chudley A.E., Dilling L.A., Phillips S., Haworth J.C., Seargeant L.E., and Goodman S.I. A G-to-T transversion at the +5 position of intron 1 in the glutaryl CoA dehydrogenase gene is associated with the Island Lake variant of glutaric acidemia type I. Hum. Mol. Genet. 4 3 (1995) 493-495
7. Smith W.E., Millington D.S., Koeberl D.D., and Lesser P.S. Glutaric acidemia, type I, missed by newborn screening in an infant with dystonia following promethazine administration. Pediatrics 107 5 (2001) 1184-1187
8. D.M. Frazier, D.S. Millington, S.E. McCandless, D. Koeberl, S. Weavil, S. Chaing, J. Muenzer, The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J. Inherit. Metab. Dis. (in press).
9. The Columbia Encyclopedia, sixth ed., Lumbee, , 2001-05 (accessed 9/19/2005).
10. Naughten E.R., Mayne P.D., Monavari A.A., Goodman S.I., Sulaiman G., and Croke D.T. Glutaric aciduria type 1: outcome in the Republic of Ireland. J. Inherit. Metab. Dis. 27 (2004) 917-920
11. Tang N.L.S., Jui J., Law L.K., Lam Y.Y., Chan K.Y., Yeung W.L., Chan A.Y.W., Cheung K.L., and Fok T.F. Recurrent and novel mutations of GCDH gene in Chinese glutaric acidemia type 1 families. Hum. Mutat. Mutation in Brief 375 (2000) online
12. Zschocke J.E., Quak P., Guldberg P., and Hoffman G.F. Mutation analysis in glutaric aciduria type 1. J. Med. Genet. 37 (2000) 177-181
13. Schwartz M., Christensen E., Superti-Furga A., and Brandt N.J. The human glutaryl-CoA dehydrogenase gene: report of intronic sequences and of 13 novel mutations causing glutaric aciduria type I. Human Genet. 102 (1998) 452-458
14. Busquets J., Merinero B., Christensen E., Gelpi J.L., Campistol J., Pineda M., Fernandez-Alvares E., Prats J.M., Sans A., Arteaga R., Marti M., Campos J., Martinez-Pardo M., Martinez-Bermejo A., Ruis-Falco M.L.L., Vaquerizo J., Orozco M., Ugarte M., Coll M.J., and Ribes A. Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically and biochemically distinct. Pediatr. Res. 48 3 (2000) 315-322
15. Goodman S.I., Stein D.E., Schlesinger S., Christensen E., Schwartz M., Greenberg C.R., and Elpeleg O.N. Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (Type 1): review and report of thirty novel mutations. Hum. Mutat. 12 (1998) 141-144