| A severely brain-damaged case of 3-hydroxyisobutyric aciduria. | |
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MedLine Citation:
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PMID: 11377004 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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 for a 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. |
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Authors:
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M Sasaki; H Iwata; K Sugai; M Fukumizu; M Kimura; S Yamaguchi |
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Publication Detail:
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Type: Case Reports; Journal Article; Review |
Journal Detail:
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Title: Brain & development Volume: 23 ISSN: 0387-7604 ISO Abbreviation: Brain Dev. Publication Date: 2001 Jul |
Date Detail:
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Created Date: 2001-05-29 Completed Date: 2001-08-02 Revised Date: 2005-11-16 |
Medline Journal Info:
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Nlm Unique ID: 7909235 Medline TA: Brain Dev Country: Netherlands |
Other Details:
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Languages: eng Pagination: 243-5 Citation Subset: IM |
Affiliation:
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Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8551, Tokyo, Japan. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Acidosis
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drug therapy,
urine* Brain Damage, Chronic / etiology* Child Humans Hydroxybutyrates / urine* Male Metabolism, Inborn Errors / diagnosis, drug therapy, urine* |
| Chemical | |
Reg. No./Substance:
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0/Hydroxybutyrates; 2068-83-9/3-hydroxyisobutyric acid |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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