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Titolo:
The first case of 4-hydroxybutyric aciduria in Japan
Autore:
Ishiguro, Y; Kajita, M; Aoshima, T; Watanabe, K; Kimura, M; Yamaguchi, S;
Indirizzi:
Nagoya Univ, Sch Med, Dept Pediat, Showa Ku, Aichi 4668550, Japan Nagoya Univ Aichi Japan 4668550 t Pediat, Showa Ku, Aichi 4668550, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 2, volume: 23, anno: 2001,
pagine: 128 - 130
SICI:
0387-7604(200103)23:2<128:TFCO4A>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
SUCCINIC SEMIALDEHYDE DEHYDROGENASE; CLINICAL PHENOTYPE; GABA-METABOLISM; DEFICIENCY;
Keywords:
4-hydroxybutyric aciduria; succinic semialdehyde dehydrogenase (SSADH) deficiency; psychomotor retardation; gamma-aminobutyric acid (GABA);
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
7
Recensione:
Indirizzi per estratti:
Indirizzo: Ishiguro, Y Nagoya Univ, Sch Med, Dept Pediat, Showa Ku, 65 Tsurumai Cho, Aichi 4668550, Japan Nagoya Univ 65 Tsurumai Cho Aichi Japan 4668550 668550, Japan
Citazione:
Y. Ishiguro et al., "The first case of 4-hydroxybutyric aciduria in Japan", BRAIN DEVEL, 23(2), 2001, pp. 128-130

Abstract

We report a boy with 4-hydroxybutyric aciduria resulting from a deficiencyof succinic semialdehyde dehydrogenase (SSADM). A boy, 1 year 5 months, showed delayed walk with hypotonia and could not speak meaningful words. The blood levels of lactate, pyruvate and amino acids were not elevated. Head magnetic resonance imaging (MRI) and electroenchephalography (EEG) were normal. Urinary organic acid analysis with gas chromatography-mass spectrometry(GCMS) revealed increased levels of 4-hydroxybutyric acid, glutaric acid, adipic acid and suberic acid. The concentrations of 4-hydroxybutyric acid and gamma -aminobutyric acid (GABA) were elevated in the serum and cerebrospinal fluid (CSF). SSADH activity in cultured lymphoblasts was 4.5% of the normal level. So far as we know this is the first Japanese patient diagnosedas 4-hydroxybutyric acid. Urinary organic acid analysis is necessary for the diagnosis of patients with unexplained psychomotor retardation. (C) 2001Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 12/08/20 alle ore 21:02:32