What is an Acidemia, Isovaleric?

April 21 22:26 2019 Print This Article

It is defined as a condition in which there occur metabolic disorders which affect the normal metabolism of the branched chain amino acid. This amino acid is known as the leucine. It is also known as the isovaleric aciduria or dehydrogenase deficiency. It is a rare condition of autosomal recessive disorder. It is a type of organic academia.

What are the signs and symtoms of Acidemia, isovaleric?

It includes a unique odor of sweaty feet which is formed due to the buildup of a compound known as isovaleric acid which occurs in the affected individuals. The signs and symptoms become apparent after few days of the birth of child. It includes the poor feeding, vomiting, seizures and the absence of energy which leads to the coma. These conditions are life threatening and are very severe. In 50 percent of the cases sign and symptoms disappear during the childhood and may come later on. They are increased or initiated by the infection or taking a large amount of protein rich diet.

What is the patho physiology of Acidemia, isovaleric?

The enzyme encoded by iso valeric acid Co A dehydrogenase plays a very important role in the breakdown of proteins. The source of protein is the diet. The enzyme is responsible for the third step in forming leucine which is an essential amino acid. The mutation in the IVD reduces the activity of the enzyme. The body is not able to break down the leucine. The iso valeric acid and other related compounds form up to toxic levels. It damages the brain and nervous system.

What is the diagnosis of Acidemia, isovaleric?

The urine of the infants is screened for this condition with the help of mass spectrometry. It helps in the early diagnosis. There is a increased elevations of the iso valeryl glycine in urine and iso valeryl carnitine in the plasma.

What is the genetic prevalence of Acidemia, isovaleric?

It affects 1 in 250,000 births in the United States. It is autosomal recessive in the nature and is inherited. It has the defective gene which is present on the autosome and has two copies of the gene. These copies are from each parent and must be inherited. The carriers are mainly the parents of the children with a copy of defective gene. They are not affected by the disorder and mutations in the IVD gene cause the isovaleric academia.

What is the treatment of Acidemia, isovaleric?

The treatment consists of restriction in the protein diet. The leucine must be avoided. In the acute phases the glycine is given. It has the ability to combine with the iso valerate which forms iso valeryl glycine. This is also known as the carnitine. Both have a similar effect.

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