Beta-ketothiolase deficiency brought with lethargy: Case report

Arica V., Arica S. G., Dag H., Onur H., Obut Ö., Gülbayzar S.

Human and Experimental Toxicology, cilt.30, sa.10, ss.1724-1727, 2011 (SCI-Expanded) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 30 Sayı: 10
  • Basım Tarihi: 2011
  • Doi Numarası: 10.1177/0960327110396533
  • Dergi Adı: Human and Experimental Toxicology
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.1724-1727
  • Anahtar Kelimeler: beta-ketothiolase deficiency, coma, ketoacidosis
  • Hatay Mustafa Kemal Üniversitesi Adresli: Evet

Özet

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. © SAGE Publications 2011.