Evidence of common ancestry for the maple syrup urine disease (MSUD) Y438N allele in non-Mennonite MSUD patients

Molecular Genetics and Metabolism

Volumn 75, Issue 1, 2002, Pages 79-90

  Love Gregory, Latisha D ^a   Grasela, Julia ^b   Hillman, Richard E ^a,b   Phillips, Charlotte L ^a,b  

^a UNIVERSITY OF MISSOURI   (United States)

^b University of Missouri   (United States)

Author keywords

Amino acidemias; Haplotypes; Maple syrup urine disease; Metabolic disorder

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE);

ALPHA CHAIN; AMINO ACID SUBSTITUTION; ARTICLE; CHROMOSOME 19Q; CONTROLLED STUDY; GENE FREQUENCY; GENE SEGREGATION; GENETIC ANALYSIS; HAPLOTYPE; HETEROZYGOTE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MAPLE SYRUP URINE DISEASE; MICROSATELLITE MARKER; PLESIOMORPHY; PRIORITY JOURNAL;

ACER;

EID: 0036351290     PISSN: 10967192     EISSN: None     Source Type: Journal    
DOI: 10.1006/mgme.2001.3264     Document Type: Article

References (27)

1. Maple syrup urine disease (branched-chain ketoaciduria)
2. Human mutations affecting branched chain alpha-ketoacid dehydrogenase
3. Management of acute metabolic decompensation in maple syrup urine disease: A multi-center study
4. Molecular and biochemical basis of intermediate maple syrup urine disease: Occurrence of homozygous G245R and F364C mutations at the E1 alpha locus of Hispanic-Mexican patients
5. Genetic defects in E3 component of alpha-keto acid dehydrogenase complexes
6. +-ion binding-site residues in human mitochondrial branched-chain alpha-ketoacid decarboxylase/dehydrogenase
7. Molecular basis of maple syrup urine disease: Novel mutations at the E1 alpha locus that impair E1 (alpha 2 beta 2) assembly or decrease steady-state E1 alpha mRNA levels of branched-chain alpha-keto acid dehydrogenase complex
8. Heterogeneity of mutations in maple syrup urine disease (MSUD): Screening and identification of affected E1 alpha and E1 beta subunits of the branched-chain alpha-keto acid dehydrogenase multienzyme complex
9. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease
10. Occurrence of a Tyr393 - Asn (Y393N) mutation in the E1 alpha gene of the branched-chain alpha-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population
11. A T to A substitution in the E1α subunit gene of the branched chain α-keto acid dehydrogenase complex in two cell lines derived from Mennonite maple syrup urine disease patients
12. Maple syrup urine disease (MSUD): Screening for known mutations in Italian patients
13. Carrier detection and rapid newborn diagnostic test for the common Y393N maple syrup urine disease allele by PCR-RFLP: Culturally permissible testing in the Mennonite community
14. Maple syrup urine disease in the Old Order Mennonites
15. Recommendations for a nomenclature system for human gene mutations
16. Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex
17. Impaired assembly of E1 decarboxylase of the branched-chain alpha-ketoacid dehydrogenase complex in type IA maple syrup urine disease
18. Assignment of the gene for the E1a subunit of branched chain a-ketoacid dehydrogenase to chromosome 19
19. Localization of the human gene for the El alpha subunit of branched chain keto acid dehydro-genase (BCKDHA) to chromosome 19q13.1-q13.2
20. Generation of Epstein-Barr virus (EBV)-immortalized B cell lines
21. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification
22. Gene preference in maple syrup urine disease
23. Maple syrup urine disease: Identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population
24. Relative mutation rates at di-, tri-, and tetranucleotide microsatellite loci
25. Dinucleotide repeat expansion catalyzed by bacteriophage T4 DNA polymerase in vitro