MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency

MRI of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is a rare mitochondrial disorder of valine metabolism which may present with motor delay, hypotonia, ataxia, dystonia, seizures poor feeding, and organic aciduria. Neuroimaging findings include signal abnormalities of the deep gray matter, particu...

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Bibliographic Details
Main Authors: Kelsey R. Casano, MD, Maura E. Ryan, MD, Alma R. Bicknese, MD, Divakar S. Mithal, MD, PhD
Format: Article
Language:English
Published: Elsevier 2021-04-01
Series:Radiology Case Reports
Subjects:
Mitochondrial disease
Basal ganglia
HIBCH deficiency
3-Hydroxyisobutyryl-CoA hydrolase
Leigh syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S1930043321000224

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http://www.sciencedirect.com/science/article/pii/S1930043321000224

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