Glutaric Acidemia/Aciduria Type 1

Let me begin by telling you, it truly is in your best interests to NOT google this disorder. I have spent the last 4 months researching as much as possible, and I will tell you the first 3 weeks of research I read some scary and mentally/emotionally draining stories and research. Glutaric acidemia type 1 (GA1) is a rare metabolic disorder that is inherited when both parents are carriers for the disorder and pass on mutated genes to their offspring. In a relationship where each parent is a carrier, each child has a 25% chance of inheriting the disorder. GA1 patients are unable to properly break down Lysine and Tryptophan (found in protein) properly. GA1 patients are on a low lysine diet, L-Carnitine and Riboflavin supplements. Because of the inability to properly breakdown these amino acids, GA1 patients have a build up of them in their blood and urine that can cause bleeding of the brain. Following the diet is only part of the battle with this disorder. Any fever, cold, stomach bug or infection can cause catastrophic events. If sickness occurs and is not quickly caught and the patient not quickly given IV fluids and tube feedings, bleeding of the brain, stroke and seizure can and will happen. Prevention and early diagnosis of sickness is the BEST way to prevent irreversible neurological and muscular damage. Most patients that experience a "metabolic crisis" lose their ability to eat independently and develop muscular spasms and rigidity. Before 2007 in the State of Texas GA1 was not a part of the newborn screener test. Before this disorder was caught early parents were not given the chance to protect their child from becoming affected. Although we firmly believe at this time that Jackson is a carrier for this disease, I felt the need to educate others. This disorder is scary and is why we chose to keep Jackson away from the general public for his first few months. The risk of him catching even the simplest cold could have devastating affects on our family.