Emmalyn graced us with her presence 10 and 1/2 years ago at 35 weeks gestation weighing in at 5 lbs, 7 ozs. and 18 inches long. Our beautiful baby girl was so tiny and perfect, and I couldn’t believe how
Read moreGlutaric acidemia type
Glutaric acidemia type I (GA-1) is an inherited disorder in which the body is unable to process certain proteins properly. People with this disorder have inadequate levels of an enzyme that helps break down the amino acids lysine, hydroxylysine, and tryptophan, which are building blocks of protein. Excessive levels of these amino acids and their intermediate breakdown products can accumulate and cause damage to the brain, particularly the basal ganglia, which are regions that help control movement. Intellectual disability may also occur.