Maple syrup urine disease: Mutation analysis in Turkish patients

Journal of Inherited Metabolic Disease

Volumn 25, Issue 2, 2002, Pages 89-97

  Dursun, A ^a   Henneke, M ^b   Ozgul K ^a   Gartner, J ^b   Coskun T ^a   Tokatli, A ^a   Kalkanoglu H S ^a   Demirkol, M ^c   Wendel, U ^b   Ozalp I ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); DIHYDROLIPOAMIDE DEHYDROGENASE; MESSENGER RNA; OXIDOREDUCTASE; MULTIENZYME COMPLEX;

ACIDEMIA; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXON; GENE DELETION; GENE MUTATION; GENETIC POLYMORPHISM; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MAPLE SYRUP URINE DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; RNA CLEAVAGE; RNA SPLICING; TURKEY (REPUBLIC); GENETICS; HOMOZYGOTE; NUCLEOTIDE SEQUENCE; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM;

DNA MUTATIONAL ANALYSIS; EXONS; GENE DELETION; HOMOZYGOTE; HUMAN; KETONE OXIDOREDUCTASES; MAPLE SYRUP URINE DISEASE; MULTIENZYME COMPLEXES; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; RNA SPLICING; RNA, MESSENGER; SUPPORT, NON-U.S. GOV'T; TURKEY; 3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); HUMANS;

EID: 0035987951     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1015668425004     Document Type: Article

References (25)

1. Crystal structure of human branched-chain α-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease
2. Maple syrup urine disease; it has come along way
3. Maple syrup urine disease (branched chain ketoaciduria)
4. Molecular cloning of the mature E1β subunit of human branched chain α-keto acid dehydrogenase complex
5. Maple syrup urine disease: The E1 beta gene of human branched-chain alpha-keto acid dehydrogenase complex has 11 rather than 10 exons, and the 3′ UTR in one of the E1 beta mRNAs arises from intronic sequences
6. E2 Transacylase-deficient (type II) maple syrup urine disease
7. The nature and mechanisms of human gene mutation
8. Construction and nucleotide sequence of a cDNA encoding the full-length preprotein for human branched chain acyltransferase
9. Structure of the gene encoding the entire mature E1α subunit of human branched-chain alpha-keto acid dehydrogenase complex
10. Screening for known mutations in Turkish patients with maple syrup urine disease (MSUD)
11. The structure of the human dihydrolipoamide dehydrogenase gene (DLD) and its upstream elements
12. Occurrence of a Tyr 393 → Asn (Y393N) mutation in the E1α gene of the branched chain α-keto acid dehydrogenase complex in MSUD patients from Mennonite population
13. Characterisation of the transcriptional regulatory region of the human dihydrolipoamide dehydrogenase gene
14. The profile of organic acidemia patients in Turkey: A 23 year experience
15. Structure of the gene encoding dihydrolipolyl transacylase (E2) component of human branched chain α-keto acid dehydrogenase complex and characterisation of an E2 pseudogene
16. The complete cDNA sequence for dihydrolipoyl transacylase (E2) of human branched-chain α-keto acid dehydrogenase complex
17. Release of infectious Epstein-Barr virus by transformed marmoset leucocytes
18. Structural organisation and chromosomal localisation of the gene for the E1-β subunit of human branched chain α-keto acid dehydrogenase
19. Gene preference in maple syrup urine disease
20. Complete primary structure of the transacylase (E2b) subunit of the human branched chain α-keto acid dehydrogenase complex
21. Inherited metabolic disease in Turkey
22. Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component of human α-keto acid dehydrogenase complexes
23. Significance of L-alloisoleucine in plasma for diagnosis of maple syrup urine disease
24. Nucleotide and deduced amino acid sequence of the E1α subunit of human liver branched-chain α-ketoacid dehydrogenase
25. Regional assignment of two genes of the human branched-chain α-keto acid dehydrogenase complex: The E1-β gene (BCKDHB) to chromosome 6p21-22 and the E2 gene (DBT) to chromosome 1p31