isovaleric acidaemia BrE
isovaleric acidemia AmE , IVA (Abkürzung)

Isovaleric acidaemia, a difficulty breaking down certain proteins, it can lead to seizures and even coma.

As well as Pompe disease the conditions being considered for the test include Maple syrup urine disease, Isovaleric acidaemia, Glutaric aciduria type 1, Tyrosinaemia, Homocysteinuira, Congential adrenal hyperplasia, and Biliary atresia.

Sheffield Children's NHS Foundation Trust ran the UK pilot to screen babies across the country for five very rare diseases - MSUD, homocystinuria, glutaric aciduria type 1, isovaleric acidaemia and long chain hydroxy acyl CoA dehydrogenase deficiency.

The odor is a diagnostic feature of a serious medical condition, Isovaleric acidemia.

A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet.

Isovaleric acidemia is an example of a disorder caused by incomplete catabolism of leucine.

The urine of newborns can be screened for isovaleric acidemia using mass spectrometry, allowing for early diagnosis.

Mutations in both copies of the IVD gene result in isovaleric acidemia.

The four main types of organic acidemia are: methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.

Newborn screening using tandem mass spectrometry can detect several organic acidemias, including propionic acidemia, methylmalonic acidemia and isovaleric acidemia.

SBCADD is included as a secondary target condition in most newborn screening programs, as the key analyte is the same as is used to identify isovaleric acidemia.

Isovaleric acidemia, also called isovaleric aciduria or isovaleric acid CoA dehydrogenase deficiency, is a rare autosomal recessive metabolic disorder which disrupts or prevents normal metabolism of the branched-chain amino acid leucine.

On 9 May 2014, the UK National Screening Committee (UK NSC) announced its recommendation to screen every newborn baby in the UK for four further genetic disorders as part of its NHS Newborn Blood Spot Screening programme, including isovaleric acidemia.