Winter 2023 OAA Newsletter (Digital Version Available Now!)
April 5, 2023
This autosomal-recessive inherited defect is characterized by excessive excretion of L-2-hydroxyglutaric acid in the urine. The precise molecular basis not well established. Clinical features: Presence of cognitive delay and epileptic seizures, Progressive ataxia, dysarthria, and extrapyramidal dysfunction. Added features of short stature and macrocrania Laboratory findings. Elevated 2-hydroxyglutaric acid in plasma, urine, and CSF. Elevated lysine in plasma and CSF.
DOB 12-25-1989
Meredith is our fourth child. She was preceded by three brothers, who are now 23, 21, and 18. The pregnancy was uneventful and other than being born on Christmas, so was the labor and delivery. She weighed in at 8 pounds even and was 21 inches long. Her Apgar scores were 9 at one minute and 10 at five minutes. After three boys, we had a little girl who appeared to be quite healthy. We took her home after three days and I started enjoying having another female in the house.
