Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia-Reference-Cited by-同舟云学术

Syndromic progressive neurodegenerative disease of infancy caused by novel variants in HIBCH: Report of two cases in Colombia

Published:2019-08-31 Issue:3 Volume:8 Page:187-193
ISSN:2186-361X
Container-title:Intractable & Rare Diseases Research
language:en
Short-container-title:IRDR

Author:

Candelo Estephania¹²,Cochard Léa¹³,Caicedo-Herrera Gabriela¹,Granados Ana M.⁴,Gomez Juan F.⁵,Díaz-Ordoñez Lorena¹,Ramirez-Montaño Diana¹,Pachajoa Harry¹⁶

Affiliation:

1. Congenital Abnormalities and Rare Diseases Research Center (CIACER), Faculty of Health Science, Universidad Icesi

2. MSc Biomaterials and Tissues Engineering and Genetics of Human Diseases, Bioscience Department, University College London

3. Biology Department, Sciences Po University

4. Radiology and Paediatric Radiologic Department, Fundación Valle del Lili

5. Paediatric Neurology Department, Fundación Valle del Lili

6. Genetic Department, Fundación Valle del Lili

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Medicine

Link

https://www.jstage.jst.go.jp/article/irdr/8/3/8_2019.01014/_pdf

Reference15 articles.

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3. 3. Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S. HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase. Orphanet J Rare Dis. 2013; 8:188.

4. 4. Yamada K, Naiki M, Hoshino S, Kitaura Y, Kondo Y, Nomura N, Kimura R, Fukushi D, Yamada Y, Shimozawa N, Yamaguchi S, Shimomura Y, Miura K, Wakamatsu N. Clinical and biochemical characterization of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency that causes Leigh-like disease and ketoacidosis. Mol Genet Metab Rep. 2014; 1:455-460.

5. 5. Hawes JW, Jaskiewicz J, Shimomura Y, Huang B, Bunting J, Harper ET, Harris RA. Primary structure and tissue-specific expression of human beta-hydroxyisobutyryl-coenzyme A hydrolase. J Biol Chem. 1996; 271:26430-26434.

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