3-hydroxy-3-methyl Glutaryl CoA lyase deficiency is a disorder of ketone synthesis. This enzyme is also on the leucine breakdown pathway. For most of the time patients are healthy & do not require a special diet. However infections, fasting or vomiting can lead to serious illness, with encephalopathy and stroke-like episodes.
Sections of this guideline include: background, admission, initial and ongoing management, oral and intravenous feeding, progress monitoring and discharge.