Whipple disease, concern for relapse (MRI)

Glutaric aciduria

Glutaric aciduria or acidemia type I is biochemically characterized by an accumulation of putatively neurotoxic glutaric and 3-hydroxyglutaric acid and nontoxic glutarylcarnitine. Long-term observational studies have demonstrated that one third of neonatally screened individuals develop neurologic symptoms. Progressive white matter abnormalities, subependymal nodules, malignant brain tumors, and chronic kidney disease have been reported in a subgroup of patients, raising concerns about the long-term disease outcome.