Glutaric Acidemia Type 2
Pathogenesis (Leukodystrophy, Fatty Acid Disorder)
- Electron Transfer Flavoprotein and Electron Transfer Flavoprotein Dehydrogenase deficiency leads to failure of protein and fat break down in mitochondria, which causes energy deficiency and toxic accumulation of proteins and fats with resultant metabolic acidosis.
- Onset: Infancy
- Presentation: Hypoglycemia and Metabolic Acidosis (Weakness/Poor Feeding)
- Systemic manifestations: Hepatomegaly, Dilated Cardiomyopathy, Distinct Facial Features, Urine smells like "Sweaty Feet".
- Neurological manifestations: Cerebral malformations
Genetics
- Gene Mutation in the production of Electron Transfer Flavoprotein and Electron Transfer Flavoprotein Dehydrogenase.
References
- Calvo, Sherri; Collins, Heather; Greenberg, Kathleen, et. al at US National Library of Medicine, Genetics Home Reference. https://ghr.nlm.nih.gov