Glutaric Acid Which amino acid(s) is(are) involved? -Glutaric acidemia type I 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. Which enzyme(s) is(are) deficient? -Glutaryl-CoA dehydrogenase which are responsible for the breakdown of Lysin, Hydroxylysin & Tryptophan What is the reason for the enzyme deficiency? -It is an inherited autosomal recessive disease. -An autosomal recessive disorder means two copies of an abnormal gene must be present in order for the disease or trait to develop. Can be passed down from generation without causing a disease. **Chances for inherited autosomal recessive disease are increased from inbreeding . As a result of this deficiency, the concentration of which molecule(s) do(es)increase? -Excessive levels of the amino acids (Lysin, Hydroxylysin & Tryptophan) will result as a consequence of the inadequate enzyme levels of Glutaryl-CoA dehydrogenase Demonstrate the chemical reaction. What are the symptoms? -GA-1 causes episodes of severe illness called metabolic crises. Some of the first symptoms of a metabolic crisis are poor appetite, extreme sleepiness or lack of energy, irritability, jitteriness, nausea, vomiting, low muscle tone (floppy muscles and joints) and muscle weakness. *Metabolic crises are often triggered by: illness or infection & fever What are the signs? -• tics or spasms of the muscles • rigid muscle contractions called spasticity • involuntary jerking movements of the arms and legs, called dystonia • poor coordination and balance problems • increased levels of acidic substances in the blood, called metabolic acidosis • seizures • swelling of the brain or blood in the brain • coma, sometimes leading to death • carnitine depletion Is this disease age or gender specific? -Inherited disease, not gender specific. Present 1 in every 40,000 babies in the US How would you diagnose this disease? --GA-I is defined as inherited deficiency of GCDH confirmed by enzyme analysis and/or demonstration of two disease-causing mutations. -Macrocephaly, acute encephalopathy, basal ganglia injury, white matter disease, movement disorders, subdural and retinal hemorrhage, and isolated elevation of GA, 3-OH-GA, and C5DC in body fluids. Most of these in isolation have a wide differential diagnosis, whereas a combination of two or more abnormalities increases the probability for GA-I. Is this disease preventable? -When both parents are carriers, there is a 25% chance in each pregnancy for the child to have two working genes. This means the child is not a carrier and does not have the disease. There is a 50% chance for the child to be a carrier, just like the parents. There is a 25% chance for the child to have GA-1. When both parents are known GA-1 carriers or have had a baby with GA-1, subsequent newborns should have special diagnostic testing in addition to the newborn screen to test for GA-1. *Prevent disease by not having a child with another recessive carrier... What is the treatment of the disease? -Riboflavin-Vitamin that helps the body use protein. It helps remove Glutaric acid from the blood. L-carnitine-Assists body in producing energy Diet Plan-Exluding foods that include Lysin/Hydroxylysin, Tryptophan -List of Foods: Meat, Poultry, Dairy Products, Fish, Eggs, Nuts, Dried beans, Peas Blood Tests

• published: 07 Feb 2016
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