Author(s): Perez Cerda C, Garcia-Villoria J, Ofman R, Sala PR, Merinero B, et al.
We describe three patients, from two Spanish families, with 2-methyl-3-hydroxybutyryl-CoA dehydrogenase (MHBD) deficiency, a recently described X-linked neurodegenerative inborn error of isoleucine metabolism. Two of them are males with severe lactic acidosis suggestive of a mitochondrial encephalopathy, and the third is a female who was less severely affected, suggesting skewed X-inactivation. Molecular studies revealed a new missense mutation, 740A→G, in one family and a previously described mutation, 388C→T, in the other, causing the amino acid substitutions N247S and R130C, respectively. Both male patients died, one of them despite treatment with an isoleucine-restricted diet, but the disease has remained stable in the female patient after 1 y of treatment.
Author(s): Zsehocke J, Ruiter JP, Brand J, Lindner M, Hoffmann GF, et a1.
Author(s): Fukao T, Akiba K, Goto M, Kuwayama N, Morita M, et al.