OBJECTIVES: The objectives of this study were to clarify the involvement of the @entity2227 dehydrogenase gene in @entity3263 ( @entity3263 ) and the relationships between the mutation of the gene and clinical severity. STUDY DESIGN: Five unrelated Japanese @entity1 (3 @entity1 and 2 @entity1 ) with @entity3263 were investigated. All @entity1 had @entity410 or @entity909 resulting from @entity4053 at less than 1 year of age. We examined mutations of the @entity2227 dehydrogenase gene using genomic or reverse-transcriptase polymerase chain reactions, followed by direct sequencing. RESULTS: We identified heterozygous missense mutations in all @entity1 . Three @entity1 had a previously identified mutation @entity69069 in the allosteric domain. Two novel missense mutations were identified in the other @entity1 . These mutations included a change of @entity6407 at nt 1059 and a change of @entity13284 at nt 966, within the catalytic domain of the @entity2227 dehydrogenase gene. The locus of the mutations was not associated with the severity of @entity4053 . CONCLUSIONS: Our results suggest that structural aberrations of not only the allosteric domain but also the catalytic domain of the @entity2227 dehydrogenase protein, caused by missense mutations, can result in the development of @entity3263 .

Novel missense mutations in the XXXX dehydrogenase gene in the congenital hyperinsulinism-hyperammonemia syndrome.

@entity1 :: ('9606', 'Species') :: ['patients', 'girls', 'boys'] @entity410 :: ('MESH:D012640', 'Disease') :: ['convulsions'] @entity2227 :: ('CHEBI:29987', 'Chemical') :: ['glutamate'] @entity909 :: ('MESH:D014474', 'Disease') :: ['loss of consciousness'] @entity4053 :: ('MESH:D007003', 'Disease') :: ['hypoglycemia'] @entity69069 :: ('c|SUB|C|1506,CODON445|T', 'DNAMutation') :: ['(C-->T at nt 1506) at codon 445'] @entity6407 :: ('c|SUB|A||C', 'DNAMutation') :: ['A-->C'] @entity13284 :: ('c|SUB|G||A', 'DNAMutation') :: ['G-->A'] @entity3263 :: ('MESH:D022124', 'Disease') :: ['CHHS', 'congenital hyperinsulinemia-hyperammonemia syndrome']
@entity2227 :: (CHEBI:29987,Chemical) :: ['glutamate']
