Journal article

Mutations in the gene encoding 3-hydroxyisobutyryl-CoA hydrolase results in progressive infantile neurodegeneration

Ference J Loupatty, Peter T Clayton, Jos PN Ruiter, Rob Ofman, Lodewijk Ijlst, Garry K Brown, David R Thorburn, Robert A Harris, Marinus Duran, Carlos DeSousa, Steve Krywawych, Simon JR Heales, Ronald JA Wanders

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2007

Abstract

Only a single patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency has been described in the literature, and the molecular basis of this inborn error of valine catabolism has remained unknown until now. Here, we present a second patient with 3-hydroxyisobutyryl-CoA hydrolase deficiency, who was identified through blood spot acylcarnitine analysis showing persistently increased levels of hydroxy-C(4)-carnitine. Both patients manifested hypotonia, poor feeding, motor delay, and subsequent neurological regression in infancy. Additional features in the newly identified patient included episodes of ketoacidosis and Leigh-like changes in the basal ganglia on a magnetic resonance imaging scan...

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