In this article we will discuss about Isovaleric acidemia. So let’s get started.
It is a autosomal recessive metabolic disorder that disrupts normal leucine metabolism leading to classical type of organic acidemia. Characterized by distinctive odor of sweaty feet during acute illness. In severe cases initial symptoms include seizures, vomiting, poor feeding and lethargy. Health problems can range from mild to life threatening. In some cases symptoms appear during childhood and may come and go over time. Children with these condition often have delayed development and in these children episodes of serious health problems are triggered on prolonged fasting, high protein consumption and infections. It has autosomal recessive inheritance pattern and mutation in IVD gene leads to isovaleric acidemia. Isovaleric acidemia affects 1 in 250,000 births in US. UK NSC recommends screening of every newborn for four further genetic disorder as a part of NHS Newborn Blood Spot Screening programme including isovaleric acidemia.