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

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

A rare autosomal recessive lysosomal storage condition called galactosylceramidase deficiency is brought on by a lack of galactocerebrosidase. Galactocerebrosidase deficiency is a rare autosomal recessive condition brought on by a lack of the enzyme (GALC, also known as galactosylceramidase). The liposomal hydrolysis of galactolipids produced during white matter myelination is carried out by the enzyme galactocere  Read More

A rare and frequently fatal lysosomal storage disorder called galactosylceramide lipidosis causes progressive harm to the nerve system. Galactosylceramide Lipidosis is an autosomal recessive condition marked by abnormal sphingolipid metabolism. The protective covering (myelin sheath) of neurons in the brain and throughout the nervous system is destroyed by this hereditary illness. It typically appears before the age of six mon  Read More

An uncommon genetic degenerative illness of the central and peripheral nervous systems is known as globoid cell leukoencephalopathy. It is distinguished by the presence of globoid cells (cells with many nuclei), the breakdown of the myelin sheath that protects nerves, and the death of brain cells. These illnesses result in a severe decline in mental and motor abilities and affect the formation or development of th  Read More

A rare genetic disorder called Harrington syndrome causes the gradual death of brain nerve cells. Harrington syndrome, which often results in mobility, cognitive, and psychological disorders, has a substantial impact on a person's functional capacities. Huntington's disease symptoms can appear at any age, but most typically appear in adults in their 30s or 40s. When the disorder appears for the first time before the age of 20,  Read More

When a person has holocarboxylase synthetase deficiency, their body is unable to metabolize proteins and carbs. Biotin is a vitamin that aids in the body's conversion of specific carbs and proteins into energy; however, people with this illness have difficulty utilizing it. Because it can result in a dangerous accumulation of organic acids and toxins in the body, holocarboxylase synthetase deficiency is regarded as an organic  Read More

The signs and symptoms of hydrocephalus vary somewhat by age of onset. Infants Common signs and symptoms of hydrocephalus in infants include: Changes in the head An unusually large head A rapid increase in the size of the head A bulging or tense soft spot (fontanel) on the top of the head Physical signs and symptoms Vomiting Sleepiness  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

Mucopolysaccharidosis Disorders are a group of rare genetic conditions caused due to deficiency of one of the lysosomal enzymes. MPS Type-III is one of seven Mucopolysaccharidosis Disorders. It is a result of an inborn metabolism error transmitted as an autosomal recessive genetic condition. An abnormal quantity of a certain chemically complex molecule excreted in the urine is one of the most prevalent symptoms of MPS disorder III  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

In Reye's syndrome, a child's blood sugar level typically drops while the levels of ammonia and acidity in his or her blood rise. At the same time, the liver may swell and develop fatty deposits. Swelling may also occur in the brain, which can cause seizures, convulsions or loss of consciousness. The signs and symptoms of Reye's syndrome typically appear about three to five days after the onset of a viral infection, such as the flu (in  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

Subacute sclerosing panencephalitis (SSPE) is a progressive neurological disorder characterized by inflammation of the brain (encephalitis). The disease may develop due to reactivation of the measles virus or an inappropriate immune response to the measles virus. SSPE usually develops 2 to 10 years after the original viral attack. Initial symptoms may include memory loss, irritability, seizures, involuntary muscle movements, and/or behavioral  Read More