Genetics/metabolics Flashcards
1
Q
Glutaric Acidemia Type 1
Sxs
Dxs
A
Sxs: usually presents as a kid with macrocephaly who has normal development until gets a febrile illness and then develops hypotonia and dystonia
- Can also present with retinal hemorrhage or subdural hematoma, so keep in differential for NAT infants
Dxs: urine shows excretion of glutaric and 3-hydroxyglutaric acids
