Beta-ketothiolase deficiency brought with lethargy: Case report
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Dosyalar
Tarih
2011
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Sage Publications Ltd
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Beta-ketothiolase deficiency is a rare autosonnal 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.
Açıklama
Anahtar Kelimeler
beta-ketothiolase deficiency, ketoacidosis, coma
Kaynak
Human & Experimental Toxicology
WoS Q Değeri
Q3
Scopus Q Değeri
Q2
Cilt
30
Sayı
10
