| Beta ketothiolase deficiency brought with lethargy: Case report. | |
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MedLine Citation:
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PMID: 21247997 Owner: NLM Status: Publisher |
Abstract/OtherAbstract:
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Beta-ketothiolase deficiency is a rare autosomal recessive disorder of isoleucine and ketone body metabolism. This disorder is clinically characterized by ketoacidotic attacks. Ketoacidosis, vomiting, and dehydration, lethargy and coma may be seen during attacks. A 9-month-old girl was admitted to our hospital with acidosis and dehydration. The patient was lethargic. Ketoacidosis was suspected because of acetone odor on her breath. Her blood glucose level was 262 mg/dL and urine ketone was (++++). Branched chain amino acid levels were elevated in her blood sample. Organic acid analysis of urine revealed 2-methylacetoacetyl-CoA thiolase deficiency. This was reported because of rarity of the disease and we should consider it in the differential diagnosis of ketoacidotic episodes. |
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Authors:
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Vefik Arica; Secil Gunher Arica; Huseyin Dag; Hatice Onur; Omer Obut; Sayat Gülbayzar |
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Publication Detail:
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Type: JOURNAL ARTICLE Date: 2011-1-19 |
Journal Detail:
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Title: Human & experimental toxicology Volume: - ISSN: 1477-0903 ISO Abbreviation: - Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-1-20 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9004560 Medline TA: Hum Exp Toxicol Country: - |
Other Details:
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Languages: ENG Pagination: - Citation Subset: - |
Affiliation:
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Mustafa Kemal University Medical Faculty, Pediatricians, Hatay, Turkey. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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