Genetic/Metabolic Disorders Flashcards
1
Q
The metabolic disease that can cause subdural hematomas and retinal hemorrhages, which can be mistaken for child abuse.
A
Glutaric aciduria type 1
- Autosomal recessive
- Lack of glutaryl-CoA dehydrogenase, which is involved in the catabolism of lysine, hydroxy-lysine, and tryptophan
