February 28th is Rare Disease Day!
Rare Disease Day is the last day of February each year. Sometimes this falls on a Leap year. Just as Feb 29th is a rare day that happens only once every 4 years, many people live with a rare disease EVERY DAY of the year.
Learn more about Rare Disease Day and how to get involved at http://www.rarediseaseday.org/
Nutricia Metabolics is proud to help support those living with a rare metabolic condition. Learn more about these RARE Metabolic conditions and help raise awareness today and everyday!
To learn more about each of these Rare Metabolic Conditions – CLICK on the letters:
Homocystinuria is an inherited, genetic disorder. “Classic” homocystinuria occurs because of a deficiency of the enzyme cystathionine betasynthase (CBS). A deficiency in CBS interferes with the body’s ability to fully process an essential amino acid called methionine. If left untreated, this can cause serious health problems.
Isovaleric acidemia (IVA) is an inherited, genetic disorder. IVA occurs when there is a defect in an enzyme that helps break down protein from food. The name of the enzyme is isovaleryl-CoA dehydrogenase (IVD).
Glutaric Aciduria Type 1 (GA-1) is an inherited, genetic disorder. GA-1 occurs when there is a defect in an enzyme that helps break down protein from food. The name of the enzyme is glutaryl-CoA dehydrogenase (GCDH).
Propionic acidemia (PA) and methylmalonic acidemia (MMA) are inherited, genetic disorders. Both are caused by defects in enzymes that are needed to break down protein. In PA and MMA, four of the amino acids cannot be broken down but instead produce toxic acids in the body. These amino acids are methionine, isoleucine, threonine and valine, which are called “propiogenic amino acids.”
Maple Syrup Urine Disease, or MSUD, is an inherited, genetic disorder caused by a defect in three enzymes that help break down protein from food. The official name for MSUD is Branched- Chain Alpha-Ketoacid Dehydrogenase Deficiency, but it is called MSUD because the urine from untreated infants with this disorder can smell sweet like maple syrup.
Urea cycle disorders (UCDs) are a group of inherited, genetic disorders. The urea cycle is a chain of reactions using a group of enzymes in the liver. These enzymes are important in removing unneeded protein byproducts (nitrogen) from the blood.
Long-chain fatty acid oxidation disorders (LC-FAODs) are a group of inherited, genetic disorders. LC-FAODS occur when there is a defect in one or more enzymes that help break down fat from food for energy. LC-FAODs prevent the body from using fats normally.