isovaleric acidemia การใช้

• Some patients with isovaleric acidemia may benefit from supplemental biotin.
• A characteristic feature of isovaleric acidemia is a distinctive odor of sweaty feet.
• The four main types of organic acidemia are : methylmalonic acidemia, propionic acidemia, isovaleric acidemia, and maple syrup urine disease.
• As a newborn suffering from certain metabolic disorder, such as isovaleric acidemia, may appear asymptomatic in the first few days or even weeks of life, early detection and treatment is key in preventing irreversible lifelong complications, such as physical disability or mental retardation.
• "' 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.
• The first reported chemical synthesis of ?-hydroxy ?-methylbutyric acid was published in 1877 by the Russian chemists Michael and Alexander Zaytsev . The earliest reported isolation of ?-hydroxy ?-methylbutyric acid as a human metabolite was by Tanaka and coworkers in 1968 from a patient with isovaleric acidemia.
• :In some inborn errors of metabolism there can be a distinctive body odor ( examples : " mouse-like " odor in phenylketonuria, " maple syrup " odor in maple syrup urine disease, " sweaty feet " odor in isovaleric acidemia, " male cat urine " odor in multiple carboxylase deficiency, " cabbage " or " rancid butter " odor in type I tyrosinemia ).