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Titolo:
A severely brain-damaged case of 3-hydroxyisobutyric aciduria
Autore:
Sasaki, M; Iwata, H; Sugai, K; Fukumizu, M; Kimura, M; Yamaguchi, S;
Indirizzi:
Natl Ctr Neurol & Psychiat, Natl Ctr Hosp Mental Nervous & Muscular Disorders, Dept Child Neurol, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat Tokyo Japan 1878551 rol, Tokyo 1878551, Japan Shimane Med Sch, Dept Pediat, Izumo, Shimane, Japan Shimane Med Sch IzumoShimane Japan , Dept Pediat, Izumo, Shimane, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
fascicolo: 4, volume: 23, anno: 2001,
pagine: 243 - 245
SICI:
0387-7604(200107)23:4<243:ASBCO3>2.0.ZU;2-P
Fonte:
ISI
Lingua:
ENG
Soggetto:
INBORN ERROR; METABOLISM; VALINE;
Keywords:
3-hydroxyisoburyric aciduria; dysmorphic features; gas chromatography-mass spectrometry;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Sasaki, M Natl Ctr Neurol & Psychiat, Natl Ctr Hosp Mental Nervous & Muscular Disorders, Dept Child Neurol, 4-1-1 Ogawahigashi Cho, Tokyo 1878551, Japan Natl Ctr Neurol & Psychiat 4-1-1 Ogawahigashi Cho Tokyo Japan 1878551
Citazione:
M. Sasaki et al., "A severely brain-damaged case of 3-hydroxyisobutyric aciduria", BRAIN DEVEL, 23(4), 2001, pp. 243-245

Abstract

We report a male case of 3-hydroxyisobutyric aciduria (3HiB-uria) with severe brain damage. He had mild asphyxia at birth. He needed tube feeding fora month. He showed mild dysmorphic features, including low set ears, a long philtrum and micrognathia. At 4 months of age he had acute encephalopathy. Thereafter, severe brain damage remained and mechanical ventilation care was needed all day. After he had been admitted to our hospital at 3 years of age, repeated organic acid analysis of urine confirmed the diagnosis of 3HiB-uria. This patient had been previously diagnosed as having cerebral palsy and sequelae of acute encephalopathy. (C) 2001 Elsevier Science B.V. Allrights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 22/09/20 alle ore 23:06:50