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Celebrate Rare Disease Day

February 29th is Rare Disease Day!Rare Disease Day

Leap day is rare day that happens only once every 4 years, but many people live with a rare disease every day of the year.  Nutricia Metabolics is proud to help support those living with a rare metabolic condition.

Rare Metabolic Disorder List

 

Learn more about these Rare Metabolic Conditions – CLICK the letters to learn more:

HCU

 

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.

IVA

 

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).

GA-1

 

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).

MMAPPA

 

 

 

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.”

MSUD

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.

UCD

 

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.

FAOD

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.

LEARN MORE ABOUT OUR FULL LINE OF METABOLIC FORMULAS FOR THE DIETARY MANANGEMENT OF THESE RARE DISORDERS

 

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