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Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis
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September 17, 2010
ABSTRACT
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.
Published Online: 2010-09-17
Published in Print: 2010-May
© Freund Publishing House Ltd. 2010
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Articles in the same Issue
- The Functional Food Era
- Pituitary Adenomas in Children and Adolescents
- Hypothalamic Hamartoma Causing Precocious Puberty in a Female Child
- “Functional Food” for Acceleration of Growth in Short Children Born Small for Gestational Age
- Cognition, Emotions and Quality of Life in Lithuanian Girls with Turner Syndrome after Growth Hormone Therapy Discontinuation
- Predictors and Growth Consequences of Central Hypothyroidism in Pediatric Patients Receiving Recombinant Human Growth Hormone
- Serum Levels of Adiponectin and Leptin in Children Born Small for Gestational Age: Relation to Insulin Sensitivity Parameters
- Growth Hormone Response to GH-Releasing Peptide-2 in Children
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- The Relationship between Vitamin D Receptor Gene Polymorphisms and Bone Density, Osteocalcin Level and Growth in Adolescents
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- Chronic Intermittent Form of Isovaleric Acidemia Mimicking Diabetic Ketoacidosis
- Obesity and Reversed Growth Retardation in a Child with Type Ia Glycogen Storage Disease
- Another Unusual Presentation of McCune Albright Syndrome with Fibrous Dysplasia, Unilateral Testicular Enlargement, and Testicular Microlithiasis
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