Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis

Erdem E., Cayonu N., Uysalol E., Yildirmak Z. Y.

Journal of Pediatric Endocrinology and Metabolism, cilt.23, sa.5, ss.503-505, 2010 (SCI-Expanded, Scopus) identifier identifier

  • 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: Childhood, Chronic type, Diabetic ketoacidosis, Isovaleric acidemia
  • Samsun Üniversitesi Adresli: Hayır

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.