brintellex
ValprolBanner
Annals of Indian Academy of Neurology
  Users Online: 1967 Home | About the Journal | InstructionsCurrent Issue | Back IssuesLogin      Print this page Email this page  Small font size Default font size Increase font size
 
ORIGINAL ARTICLE
Ahead of Print

3-Hydroxyisobutyryl-CoA Hydrolase (HIBCH) Deficiency Cases Diagnosed by Only HIBCH Gene Analysis and Novel Pathogenic Mutation


1 University of Health Sciences, Okmeydani Training and Research Hospital, Division of Pediatric Metabolism, Istanbul, Turkey
2 Bursa Yuksek Ihtisas Training and Research Hospital, Department of Genetics, Bursa, Turkey

Correspondence Address:
Nafiye Emel Çakar,
University of Health Sciences, Okmeydani Training and Research Hospital, Division of Pediatric Metabolism, Istanbul, Turkey

Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/aian.AIAN_192_20

Objective: 3‐Hydroxyisobutyryl‐CoA hydrolase (HIBCH) deficiency is a rare metabolic disease of valine metabolism. Only 22 cases of HIBCH deficiency have been reported in the literature. Our algorithm could help in the diagnosis of this disease. Methods: HIBCH gene analysis was performed in all cases. Results: The common features of our five patients from the same family with a developmental delay, seizures, and neurological regression were the elevation of 3-hydroxy-isobutyryl-carnitine and Leigh-like abnormalities. Unlike other patients in the literature, our patients were diagnosed with HIBCH gene analysis, rather than whole exome sequencing (WES). In all our cases, a missense c.452C>T, p. Ser151Leu homozygous novel pathogenic mutation was detected in the HIBCH gene. Conclusion: In cases where HIBCH deficiency is considered in our differential diagnosis algorithm, HIBCH gene analysis, which is cost-effective, should be performed instead of WES, and the number of cases should be increased in the literature.


Print this article
 [NEXT]
 [PREV]
 Table of Contents

  Search Pubmed for
 
    -  Çakar NE
    -  Görükmez O
 Citation Manager
 Access Statistics
 Reader Comments
 Email Alert *
 Add to My List *
 * Requires registration (Free)
 

 Article Access Statistics
    Viewed60    
    PDF Downloaded7    

Recommend this journal