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

Journal of Inherited Metabolic Disease

Volumn 24, Issue 3, 2001, Pages 393-403

  Love Gregory, L D ^a   Dyer, J A ^b   Grasela, J ^b   Hillman, R E ^b   Phillips, C L ^c  

^a UNIVERSITY OF MISSOURI   (United States)

^b University of Missouri   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); AMINO ACID; DNA;

ALLELE; AMINO ACID ANALYSIS; AMINO ACID BLOOD LEVEL; ARTICLE; BASE MISPAIRING; COMMUNITY; CONTROLLED STUDY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; GENE MUTATION; HETEROZYGOTE DETECTION; HOMOZYGOSITY; HUMAN; INFANT; MAPLE SYRUP URINE DISEASE; MUTATION RATE; NEWBORN; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); ALLELES; GENE FREQUENCY; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; KETONE OXIDOREDUCTASES; MAPLE SYRUP URINE DISEASE; MULTIENZYME COMPLEXES; MUTATION; NEONATAL SCREENING; PEDIGREE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RELIGION;

EID: 0034918035     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1010517005001     Document Type: Article

References (18)

1. Crystal structure of human branched chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease
2. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry
3. Disorders of branched chain amino acids and keto acid metabolism
4. Newborn Screening Fact Sheets
5. Human mutations affecting branched chain α-keto acid dehydrogenase
6. Prospective study of maple syrup urine disease for the first four days of life
7. Molecular phenotypes in cultured maple syrup urine disease cells: Complete E1 alpha cDNA sequence and mRNA and subunit contents of the human branched chain alpha-keto acid dehydrogenase complex
8. Maple syrup urine disease in Mennonites: Evidence that the Y393N mutation in E1α impedes assembly of the E1α component of the branched chain α-keto acid dehydrogenase complex
9. Occurrence of a Tyr393 to Asn (Y393N) mutation in the E1α gene of the branched-chain α-keto acid dehydrogenase complex in maple syrup urine disease patients from a Mennonite population
10. Maple syrup urine disease in the old Order Mennonites
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. DNA microextraction from dried blood spots on filter paper blotters: Potential applications to newborn screening
13. Gene analysis of Mennonite maple syrup urine disease kindred using primer-specified restriction map modification
14. Newborn screening for maple syrup urine disease (branched-chain ketoaciduria)
15. Heterogeneity of mutations in maple syrup urine disease (MSUD): Screening and identification of affected E1α subunits of the branched chain α-keto acid dehydrogenase multienzyme complex
16. Maple-syrup-urine disease
17. High frequency of the Y393N mutation in the E1α subunit of the branched chain α-keto acid dehydrogenase complex in non-Mennonite maple syrup urine disease patients
18. Evidence for both a regulatory mutation and a structural mutation in a family with maple syrup urine disease