Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1588, Issue 1, 2002, Pages 79-84

  Naito, Etsuo ^a,d   Ito, Michinori ^a   Yokota, Ichiro ^a   Saijo, Takahiko ^a   Matsuda, Junko ^a   Ogawa, Yukiko ^a   Kitamura, Seiko ^a   Takada, Eiko ^b   Horii, Yoshihiro ^c   Kuroda, Yasuhiro ^a  

^a UNIVERSITY OF TOKUSHIMA   (Japan)

^b SAITAMA MEDICAL UNIVERSITY   (Japan)

^c Yamashiro Hospital   (Japan)

^d Tel: +81 88 633 7134 ^*  (Japan)

Author keywords

E1 subunit; Lactic acidemia; Pyruvate dehydrogenase complex deficiency; Thiamine pyrophosphate; Thiamine treatment; TPP binding region

Indexed keywords

COCARBOXYLASE; LACTIC ACID; PYRUVATE DEHYDROGENASE; THIAMINE;

ARTICLE; BINDING AFFINITY; BINDING SITE; BIOCHEMISTRY; CASE REPORT; CONCENTRATION (PARAMETERS); CONTROLLED STUDY; DISEASE COURSE; DNA SEQUENCE; ENZYME ACTIVITY; ENZYME ANALYSIS; ENZYME DEFICIENCY; EXON; GENDER; HUMAN; HUMAN CELL; INFANT; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; MALE; MOLECULAR BIOLOGY; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD; X CHROMOSOME LINKAGE;

BINDING SITES; CELLS, CULTURED; CHILD; EXONS; HUMANS; INFANT; LACTIC ACID; LYMPHOCYTES; MALE; POINT MUTATION; PYRUVATE DECARBOXYLASE; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; THIAMINE;

EID: 18644374985     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0925-4439(02)00142-4     Document Type: Article

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