Molecular basis of intermittent maple syrup urine disease: Novel mutations in the E2 gene of the branched-chain α-keto acid dehydrogenase complex

Journal of Human Genetics

Volumn 43, Issue 2, 1998, Pages 91-100

  Tsuruta, Motoko ^a   Mitsubuchi, Hiroshi ^a   Mardy, Sek ^a   Miura, Yuichi ^a   Hayashida, Yumi ^a   Kinugasa, Akihiko ^b   Ishitsu, Takateru ^c   Matsuda, Ichiro ^a   Indo, Yasuhiro ^a  

^a KUMAMOTO UNIVERSITY   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c Kumamoto Saishunsou National Hospital   (Japan)

Author keywords

Branched chain keto acid dehydrogenase complex; Dihydrolipoyl transacylase (E2); Inborn error of metabolism; Intermittent maple syrup urine disease; Maple syrup urine disease; Mutation analysis of the E2 gene

Indexed keywords

ACER;

2 OXOISOVALERATE DEHYDROGENASE (LIPOAMIDE); ACYLTRANSFERASE; BRANCHED CHAIN AMINO ACID; DIHYDROLIPOAMIDE ACYLTRANSFERASE; DNA; MULTIENZYME COMPLEX; OXIDOREDUCTASE;

ARTICLE; CASE REPORT; CELL CULTURE; CHEMISTRY; CONSANGUINITY; ENZYMOLOGY; EXON; FEMALE; GENE; GENETICS; GENOTYPE; HUMAN; LYMPHOCYTE; MALE; MAPLE SYRUP URINE DISEASE; METABOLISM; MOLECULAR GENETICS; NEWBORN; NUCLEOTIDE SEQUENCE; PERIODICITY; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PROTEIN CONFORMATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RNA SPLICING;

3-METHYL-2-OXOBUTANOATE DEHYDROGENASE (LIPOAMIDE); ACYLTRANSFERASES; AMINO ACIDS, BRANCHED-CHAIN; BASE SEQUENCE; CELLS, CULTURED; CHILD, PRESCHOOL; CONSANGUINITY; DNA; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES; GENOTYPE; HUMANS; INFANT, NEWBORN; KETONE OXIDOREDUCTASES; LYMPHOCYTES; MALE; MAPLE SYRUP URINE DISEASE; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; PERIODICITY; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN CONFORMATION; RNA SPLICING;

EID: 0031616312     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380050047     Document Type: Article

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