The first case of 4-hydroxybutyric aciduria in Japan

Brain and Development

Volumn 23, Issue 2, 2001, Pages 128-130

  Ishiguro, Yoshiko ^a   Kajita, Mitsuharu ^a   Aoshima, Tsutomu ^a   Watanabe, Kazuyoshi ^a   Kimura, Masahiko ^b   Yamaguchi, Seiji ^b  

^a NAGOYA UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b SHIMANE UNIVERSITY   (Japan)

Author keywords

Aminobutyric acid (GABA); 4 Hydroxybutyric aciduria; Psychomotor retardation; Succinic semialdehyde dehydrogenase (SSADH) deficiency

Indexed keywords

4 HYDROXYBUTYRIC ACID; LACTIC ACID; PYRUVIC ACID; SUCCINATE SEMIALDEHYDE DEHYDROGENASE;

ACIDURIA; ARTICLE; CASE REPORT; CEREBROSPINAL FLUID; CHILD; CLINICAL FEATURE; ELECTROENCEPHALOGRAM; ENZYME DEFICIENCY; GAS CHROMATOGRAPHY; HUMAN; MALE; MASS SPECTROMETRY; PSYCHOMOTOR RETARDATION;

ALDEHYDE OXIDOREDUCTASES; AMINO ACID METABOLISM, INBORN ERRORS; BRAIN; GAMMA-AMINOBUTYRIC ACID; HUMANS; HYDROXYBUTYRATES; HYPERKINESIS; INFANT; JAPAN; MALE; PSYCHOMOTOR DISORDERS; SUCCINATE-SEMIALDEHYDE DEHYDROGENASE;

EID: 0035119549     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(01)00181-4     Document Type: Article

References (7)

1. Inherited disorders of GABA metabolism
2. 4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism
3. The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients
4. Diagnosis and management of glutaric aciduria type 1
5. Human succinic semialdehyde dehydrogenase: molecular cloning and chromosomal localization
6. Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)
7. Vigabatrin therapy in six patients with succinic semialdehyde dehydrogenase deficiency