Batten disease is the common name for a group of lysosomal storage disorders called neuronal ceroid lipofuscinoses. There are 14 forms of the disease, and they primarily affect the eyes and the central nervous system. The diseases can be classified into four groups: infantile, late-infantile, juvenile, and adult-onset forms. Patients commonly present progressive cognitive and visual impairments, epileptic seizures, and deterio  Read More

Batten-mayou syndrome is an inherited metabolic disorder. It is passed down through families, thereby triggering a genetic mutation in an individual. The batten-mayou syndrome is evident to affect the cell’s competency to break down cellular waste, thereby, eliminating it from the body. When the body is unable to get rid of the sugars, lipids and proteins, they start accumulating, in turn, affecting the nervous system an  Read More

Maple syrup urine disease (MSUD) is a rare genetic disorder characterized by deficiency of certain enzymes (branched-chain alpha-keto acid dehydrogenase complex) required to breakdown (metabolize) specific amino acids in the body. Because these amino acids are not metabolized, they, along with their various byproducts, abnormally accumulate in the cells and fluids of the body. Such accumulation can cause a variety of symptoms including letharg  Read More

Hyperammonemia due to carbamoyl phosphate is one of a set of conditions known as urea cycle disorders. A crucial liver enzyme is absent in people who lack hyperammonemia due to carbamoyl phosphate. Hyperammonemia, which results from this, raises the blood's ammonia levels and can be dangerous, particularly for the brain.The majority of affected people (those with the neonatal-onset form) will exhibit symptoms withi  Read More

Hyperammonemia due to ornithine transcarbamylase deficiency, is when a newborn with an unexplained sickness that includes vomiting, progressive lethargy, and irritability should have an hyperammonemia due to ornithine transcarbamylase deficiency assessed. Blood tests may show abnormally high levels of ammonia, which is a sign of a problem with the urea cycle. However, other diseases such as organic acidemias, cong  Read More