Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis
- Resource Type
- Authors
- Ezgi Uysalol; Z. Yildiz Yildirmak; Ela Erdem; Nihal Cayonu
- Source
- Journal of Pediatric Endocrinology and Metabolism. 23
- Subject
- congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pediatrics
Diabetic ketoacidosis
Endocrinology, Diabetes and Metabolism
Diabetic Ketoacidosis
Diagnosis, Differential
Hemiterpenes
Endocrinology
Increased anion gap
Internal medicine
medicine
Humans
Child
Pentanoic Acids
Amino Acid Metabolism, Inborn Errors
business.industry
nutritional and metabolic diseases
Metabolic acidosis
Late childhood
medicine.disease
Isovaleric Acidemia
Treatment Outcome
Leucine metabolism
Acute type
Hyperglycemia
Chronic Disease
Pediatrics, Perinatology and Child Health
Female
Acidosis
business
- Language
- ISSN
- 2191-0251
0334-018X
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.