2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.

Sass, Jörn Oliver

2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism. [electronic resource] - Molecular genetics and metabolism Jan 2008 - 30-5 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

1096-7192

10.1016/j.ymgme.2007.09.002 doi


Amino Acid Metabolism, Inborn Errors--diagnosis
Butyryl-CoA Dehydrogenase--deficiency
Cells, Cultured
Child
Child, Preschool
Female
Genotype
Glycine--analogs & derivatives
Humans
Infant
Isoleucine--administration & dosage
Male
Metabolism
Valerates--urine