Branched-chain ketonuria, also known as maple syrup urine disorder, is a metabolic disorder caused by the abnormal activity of the Branched-Chain alpha-Keto Acid Dehydrogenase (BCKAD) complex. The enzyme is responsible for the metabolism of branched-chain amino acids. The deficiency of the enzymes leads to the accumulation of the substrate in plasma and urine. The high levels of keto acids lead to serious neurological manifest  Read More

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More

Leigh syndrome is a rare genetic neurometabolic disorder. It is characterized by the degeneration of the central nervous system (i.e., brain, spinal cord, and optic nerve). The symptoms of Leigh syndrome usually begin between the ages of three months and two years. Symptoms are associated with progressive neurological deterioration and may include loss of previously acquired motor skills, loss of appetite, vomiting, irritability, and/or seizur  Read More