Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: A compound heterozygote with 103-121del and 1460t>A of the ALDH5A1 gene

Human Heredity

Volumn 53, Issue 1, 2002, Pages 42-44

  Aoshima, Tsutomu ^a   Kajita, Mitsuharu ^a   Sekido, Yoshitaka ^b   Ishiguro, Yoshiko ^a   Tsuge, Ikuya ^a   Kimura, Masahiko ^c   Yamaguchi, Seiji ^c   Watanabe, K Kazuyoshi ^a   Shimokata, Kaoru ^b   Niwa, Toshimitsu ^b  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b NAGOYA UNIVERSITY HOSPITAL   (Japan)

^c SHIMANE UNIVERSITY   (Japan)

Author keywords

4 Aminobutyric acid; 4 Hydroxybutyric aciduria; Mutation; Succinic semialdehyde dehydrogenase deficiency

Indexed keywords

GENOMIC DNA; MESSENGER RNA; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ARTICLE; CASE REPORT; CELL CULTURE; CHILD; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE COURSE; DNA EXTRACTION; ENZYME DEFICIENCY; FRAMESHIFT MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC HETEROGENEITY; HETEROZYGOSITY; HUMAN; HUMAN CELL; LYMPHOBLAST; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PHENOTYPE; PSYCHOMOTOR RETARDATION; RNA EXTRACTION;

ALDEHYDE OXIDOREDUCTASES; GABA AGONISTS; HUMANS; HYDROXYBUTYRATES; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; SEQUENCE DELETION; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 18344370792     PISSN: 00015652     EISSN: None     Source Type: Journal    
DOI: 10.1159/000048603     Document Type: Article

References (3)

1. The first case of 4-hydroxybutyric aciduria in Japan
2. Lakobs: 4-Hydroxybu-tyric aciduria: Applicaton of a fluorometric assay to the determination of succinic semialdehyde dehydrogenase activity in extracts of cultured human lymphoblasts
3. Two exon-skipping mutation as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydrobutyric aciduria)