Isovaleric Acidemia in a 5 Years of Boy: A Case Report

  • Nazmul Haque Assistant Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Narayan Saha Professor & Head, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Md Badrul Alam Director & Professor of Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Quazi Deen Mohammad Director & Professor of Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh;
  • Sk Azimul Hoque Associate Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Ariful Islam Associate Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Yamin Shahriar Chowdhury Assistant Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
  • Bithi Debnath Assistant Professor, Department of Paediatric Neurology, National Institute of Neurosciences & Hospital, Dhaka, Bangladesh
Keywords: Isovaleric academia; autosomal recessive disease; leucine metabolism

Abstract

Isovaleric acidemia (IVA) is an autosomal recessive disease of leucine metabolism due to deficiency of isovaleryl-CoA dehydrogenase (IVD). In this case report a five years old boy was admitted to National Institute of Neurosciences and Hospital, Dhaka Bangladesh with the history of fever, cough, vomiting, diarrhea, stupor and extreme sleepiness for 3 days. Second degree consanguinity was documented between the parents. Neurological examination revealed exaggerated reflexes and ankle clonus was present bilaterally. EEG and MRI of brain had normal results. Urine organic acid analysis by gas chromatography-mass spectrometry showed slight increment in concentration of 3 hydroxyisovaleric acid and an elevated concentration of isovalerylglycine. Tandem mass spectrometry of acylcarnitines in dried blood spots showed elevated C5-carnitine isovalerylcarnitine (10.3umol/l). Based on history, clinical examination and laboratory results, a diagnosis of isovaleric academia was ascertained. Patient was treated accordingly with rehydration fluid, correction of metabolic acidosis, antibiotic and supportive care

Journal of Current and Advance Medical Research 2019;6(1):64-66

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Abstract
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PDF
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Published
2019-03-27
How to Cite
Haque, N., Saha, N., Alam, M. B., Mohammad, Q., Hoque, S., Islam, A., Chowdhury, Y., & Debnath, B. (2019). Isovaleric Acidemia in a 5 Years of Boy: A Case Report. Journal of Current and Advance Medical Research, 6(1), 64-66. https://doi.org/10.3329/jcamr.v6i1.40788
Section
Case Reports