Chronic intermittent form of isovaleric acidemia mimicking diabetic ketoacidosis.
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.
Erdem
Ela
E
Pediatric Clinic-Sisli Etfal Education and Research Hospital, Istanbul, Turkey. elaerdem@yahoo.com
Cayonu
Nihal
N
Uysalol
Ezgi
E
Yildirmak
Z Yildiz
ZY
D000138:Acidosis / Q000097:blood / Q000175:diagnosis*; D000592:Amino Acid Metabolism, Inborn Errors / Q000097:blood / Q000150:complications / Q000175:diagnosis* / Q000628:therapy; D002648:Child; D002908:Chronic Disease; D016883:Diabetic Ketoacidosis / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005260:Female; D045782:Hemiterpenes; D006801:Humans; D006943:Hyperglycemia / Q000097:blood / Q000175:diagnosis / Q000209:etiology; D010421:Pentanoic Acids / Q000097:blood*; D016896:Treatment Outcome
D045782:Hemiterpenes; D010421:Pentanoic Acids; C008216:isovaleric acid