Zellweger syndrome is caused by genetic mutations that disrupt the normal formation and function of peroxisomes, which are tiny structures inside cells responsible for important metabolic tasks. Specifically, it results from mutations in any one of more than a dozen…
Peroxisomal disorders are a group of rare genetic conditions caused by defects in the function or formation of peroxisomes, which are tiny structures inside cells responsible for important metabolic tasks such as breaking down very long-chain fatty acids and detoxifying…
Metachromatic leukodystrophy (MLD) is caused by a genetic defect that leads to a deficiency in a specific enzyme called arylsulfatase A (ASA). This enzyme normally helps break down certain fats called sulfatides, which are important components of the protective covering…
Adrenoleukodystrophy (ALD) is a rare genetic disorder that primarily affects the nervous system and adrenal glands. It disrupts the breakdown of very long-chain fatty acids, leading to their accumulation in tissues, especially in the brain’s white matter and adrenal cortex.…
Leukodystrophy is caused primarily by genetic mutations that affect the development or maintenance of the white matter in the brain and spinal cord. White matter consists largely of myelin, a fatty substance that insulates nerve fibers and allows electrical signals…
Pelizaeus-Merzbacher disease (PMD) is a rare genetic disorder that primarily affects the central nervous system, leading to a range of neurological symptoms. The symptoms arise because the disease disrupts the formation of myelin, the protective sheath around nerve fibers, which…
Krabbe disease is caused by mutations in a specific gene responsible for producing an important enzyme called galactocerebrosidase, often abbreviated as GALC. This enzyme plays a crucial role in breaking down certain fats (lipids) that are found in the protective…
Alexander disease is a rare neurological disorder that primarily affects the brain’s white matter, which is crucial for transmitting signals between nerve cells. It results from mutations in the GFAP gene, leading to abnormal accumulation of a protein called glial…
Canavan disease is caused by mutations in a specific gene called ASPA, which leads to a deficiency of an important enzyme known as aspartoacylase. This enzyme normally breaks down a molecule called N-acetylaspartate (NAA) in the brain. When aspartoacylase is…
Lafora disease is a rare, inherited, progressive neurological disorder that primarily affects adolescents and young adults. It is characterized by the accumulation of abnormal glycogen-like inclusions called Lafora bodies in neurons and other tissues, leading to severe epilepsy, cognitive decline,…