Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis
Journal of Pediatric Endocrinology and Metabolism, cilt.23, sa.5, ss.503-505, 2010 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 23 Sayı: 5
- Basım Tarihi: 2010
- Doi Numarası: 10.1515/jpem.2010.082
- Dergi Adı: Journal of Pediatric Endocrinology and Metabolism
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.503-505
- Anahtar Kelimeler: isovaleric acidemia, chronic type, childhood, diabetic ketoacidosis
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Isovaleric acidemia is a rare autosomal recessive inborn error of leucine metabolism. Two phenotypes with either an acute neonatal or a chronic intermittent presentation were described. The acute type is observed more frequently and is more fatal. We report the case of a girl in childhood who presented with hyperglycemia and metabolic acidosis with an increased anion gap; and preliminarily diagnosed as diabetic ketoacidosis, but further investigation revealed chronic intermittent isovaleric academia. This case is of interest because of the rarity of this presentation. The importance of thinking for inborn errors of metabolism in children with metabolic acidosis in late childhood is emphasized. © Freund Publishing House Ltd.