N-Acetylglutamate Synthase (NAGS) deficiency is a rare genetic disorder that can lead to severe metabolic complications if not diagnosed and managed appropriately. This condition affects the body’s ability to produce a crucial enzyme needed for the urea cycle, which is responsible for removing ammonia from the bloodstream. High levels of ammonia can be toxic and […]
Symptoms of PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare genetic disorder that can significantly impact an individual’s health. This condition arises from mutations in the PHGDH gene, which plays a crucial role in the biosynthesis of serine, an amino acid essential for various physiological processes. Understanding the symptoms of PHGDH […]
NEU1 gene neuraminidase deficiency, also known as sialidosis, is a rare genetic disorder that affects the body’s ability to properly break down certain complex molecules. This condition can lead to a wide range of symptoms, varying significantly in severity from person to person. Understanding these symptoms is crucial for early diagnosis and treatment. DNA Labs […]
Niemann-Pick disease type A and B is a rare genetic disorder caused by mutations in the SMPD1 gene. This condition significantly impacts the body’s ability to metabolize cholesterol and other lipids within the cells, leading to harmful accumulation. The severity and symptoms can vary widely among affected individuals, ranging from non-neurological manifestations in type B […]
Niemann-Pick disease type C1 (NPC1) is a rare genetic disorder that affects the body’s ability to metabolize cholesterol and other lipids within cells. This leads to an accumulation of these substances in various tissues, which can cause a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and management of the condition. […]
Niemann-Pick Disease Type C2 (NPC2) is a rare, inherited lysosomal storage disorder characterized by the accumulation of lipids (fats) in the lysosomes of cells. This accumulation can lead to a wide range of symptoms affecting the liver, spleen, lungs, brain, and other organs. Early diagnosis and intervention are critical for managing the disease and improving […]
Understanding the intricacies of our genetic makeup is pivotal in diagnosing and managing various inherited conditions. One such condition, Odontohypophosphatasia, is a rare genetic disorder that affects the development of bones and teeth. This condition is linked to mutations in the ALPL gene, which plays a crucial role in bone mineralization. Identifying symptoms early can […]
Ornithine Transcarbamoylase (OTC) deficiency is a genetic disorder that affects the body’s ability to detoxify ammonia, a waste product of protein metabolism. This condition, which is part of a group of disorders known as urea cycle disorders, can lead to various health issues, ranging from mild to severe. Recognizing the symptoms early and undergoing genetic […]
Understanding the symptoms of genetic conditions is crucial for early diagnosis and management. One such condition is Orotic Aciduria, a rare metabolic disorder that affects the body’s ability to metabolize certain proteins properly. This condition is caused by mutations in the UMPS gene, which plays a significant role in the pyrimidine synthesis pathway. DNA Labs […]
Mucopolysaccharidosis Type 3D, also known as Sanfilippo Syndrome Type D, is a rare genetic disorder that affects the body’s ability to break down certain sugar molecules. This condition is part of a group of diseases known as lysosomal storage disorders. It is caused by mutations in the GNS gene, which leads to the accumulation of […]
DNA Labs UAE is a leading provider of genomics services in the United Arab Emirates. Our comprehensive range of services includes DNA sequencing, gene expression analysis, and SNP genotyping. With state-of-the-art equipment and a dedicated team of scientists and technicians, we ensure high-quality, accurate, and reliable data.
