Isovaleric Acidemia or isovaleric aciduria is an autosomal metabolic illness which prevents or disturbs the normal metabolism of branched-chain amino acid leucine. It is a traditional form of organic academia.
Isovaleric acidemia is approximately affecting 1 in every 250,000 live births in the US. It is an autosomal recessive inherited disorder which is caused by the IVD gene mutations (where both copies have undergone mutation). Isovaleric acid-CoA dehydrogenase (EC 18.104.22.168) is the enzyme encoded by IVD. This enzyme plays a great role in the breakdown of proteins from an individual's diet. It, specifically, is the one that is responsible on the third step of processing leucine which is a very important amino acid. If mutations occur with the IVD gene and the activity of the enzyme is eliminated or reduced, then the human body will be unable to break down the amino acid leucine properly. This results in the buildup of isovaleric acid and other related compounds to levels that become toxic. The end product is a damaged nervous system or brain.
There are three ways to treat isovaleric acidemia: the first is a specialized diet that is low in protein (which is a medical formula that can be prepared by a physician for the patient); the second is an oral administration of glycine and carnitine; and the last is immediate medical assistance as soon as the symptoms occur. The special preparation of diet should include only 2 grams of protein or about a half cup of any of the following foods: cold or hot cereals, breads, bagels, croutons, pasta noodles, pita bread, tortillos, yams and sweet potatoes, to name just a few.
The most common characteristic of isovaleric acedemia is the distinct odor of the feet which are also sweaty. The cause of this stinky odor is the buildup of a certain compound which is called isovaleric acid among affected people. Approximately half of the cases who are afflicted with this illness manifest symptoms such as vomiting, poor feeding, lack of energy and seizures. These symptoms could complicate and result into coma. These medical issues are usually severely fatal. On the other half of the cases, the signs of the illness occur while in childhood and may recur or simply disappear as the years go by. These are often triggered by the over consumption of protein-rich food or by an infection. The urine of newborn babies could be screened for isovaleric acidemia with the use of mass spectrometry. Early diagnosis could help in the treatment of the disease.