Leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that affect the brain, spinal cord, and often the peripheral nerves. One specific type of leukodystrophy is Hypomyelinating Leukodystrophy Type 4, caused by mutations in the HSPD1 gene. This condition is characterized by a significant reduction in the formation of myelin, the protective covering of […]

Leukodystrophies are a group of rare genetic disorders that affect the white matter of the brain. Among these, Hypomyelinating Leukodystrophy Type 3, linked to mutations in the AIMP1 gene, is particularly noteworthy due to its impact on the nervous system’s development and function. Recognizing the symptoms and understanding the diagnostic process, including the role of […]

Leukodystrophies are a group of rare, progressive, metabolic, genetic disorders that affect the brain, spinal cord, and often the peripheral nerves. Among these, hypomyelinating leukodystrophies are characterized by insufficient formation of myelin, the protective sheath around nerve fibers. One specific type of hypomyelinating leukodystrophy is linked to mutations in the GJC2 gene. Understanding the symptoms […]

Leukodystrophies are a group of rare genetic disorders that primarily affect the white matter of the central nervous system, leading to a progressive decline in neurological function. Among these, LMNB1 gene leukodystrophy, also known as adult-onset autosomal dominant demyelinating leukodystrophy, stands out due to its unique genetic cause and pattern of inheritance. It is caused […]

Lesch-Nyhan Syndrome (LNS) is a rare genetic disorder that affects the body’s ability to metabolize purines, which are found in various foods and are also produced by the body. The condition is caused by mutations in the HPRT1 gene and is inherited in an X-linked recessive pattern, meaning it predominantly affects males. The symptoms of […]

At DNA Labs UAE, we understand the importance of accurate genetic testing for the diagnosis and management of various genetic conditions. One such condition is Leigh syndrome, a severe neurological disorder that affects individuals from an early age. Leigh syndrome associated with the PDHA1 gene is X-linked, meaning it predominantly affects males, though carrier females […]

— Leigh Syndrome French-Canadian type, a variant of Leigh Syndrome, is a severe neurological disorder that typically manifests in infancy or early childhood. This condition, linked to the LRPPRC (Leucine-Rich Pentatricopeptide Repeat Containing) gene, is particularly prevalent among the French-Canadian population of Quebec but can occur in any ethnic group. DNA Labs UAE offers a […]

Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. A rare cause of Leigh syndrome, associated with the […]

Leigh syndrome, a severe neurological disorder that often becomes apparent in the first year of life, has been a subject of extensive research and concern within the medical community. Among the various causes of Leigh syndrome, a deficiency in the enzyme pyruvate carboxylase due to mutations in the PC gene stands out due to its […]

Leigh syndrome, a severe neurological disorder, arises due to genetic mutations that affect the energy production in mitochondria, the powerhouse of cells. Among these, mutations in the LIPT1 gene lead to a specific form of Leigh syndrome associated with pyruvate and alpha-ketoglutarate dehydrogenase deficiencies. This article explores the symptoms of LIPT1 gene Leigh syndrome, the […]