Isovaleric Acidemia in a 5 Years of Boy: A Case Report
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
Copyright (c) 2019 Nazmul Haque, Narayan Saha, Md Badrul Alam, Quazi Deen Mohammad, Sk Azimul Hoque, Ariful Islam, Yamin Shahriar Chowdhury, Bithi Debnath
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright on any research article in the Journal of Current and Advance Medical Research is retained by the author(s).
The authors grant the Journal of Current and Advance Medical Research a license to publish the article and identify itself as the original publisher.
Articles in the Journal of Current and Advance Medical Research are Open Access articles published under the Creative Commons CC BY-NC License (https://creativecommons.org/licenses/by-nc/4.0/)
This license permits use, distribution and reproduction in any medium, provided the original work is properly cited, and it is not used for commercial purposes.