2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.

Abstract

We describe a further case of recently reported 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a disorder of isoleucine metabolism. The development of pronounced brain atrophy and symmetrical alterations of the basal ganglia were observed and the importance of specific enzymatic tests is emphasized, which should be performed if urinary metabolites suggest impaired catabolism of isoleucine.

• Authors: Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl
• Journal: Brain & development (Brain Dev) Vol. 26 Issue 1 Pg. 12-4 (Jan 2004) ISSN: 0387-7604 [Print] Netherlands
• PMID: 14729408 (Publication Type: Case Reports, Journal Article)

Chemical References

• Hydroxybutyrates
• Isoleucine
• 2-methyl-3-hydroxybutyric acid
• Alcohol Oxidoreductases
• 3-Hydroxyacyl CoA Dehydrogenases
• 2-methyl-3-hydroxybutyryl-coenzyme A dehydrogenase

Topics

• 3-Hydroxyacyl CoA Dehydrogenases
• Alcohol Oxidoreductases (deficiency)
• Amino Acid Metabolism, Inborn Errors (pathology, physiopathology)
• Brain (pathology)
• Child, Preschool
• Humans
• Hydroxybutyrates (urine)
• Infant
• Infant, Newborn
• Isoleucine (metabolism)
• Magnetic Resonance Imaging
• Neurodegenerative Diseases (etiology, physiopathology)