Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare, inherited genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various body tissues, causing a range of symptoms that can affect appearance, physical abilities, organ and system functioning, and, in […]
Metabolic Disorders
Symptoms and Testing information for SGSH Gene Mucopolysaccharidosis Type 3A Genetic Test
DNA Labs UAE stands at the forefront of genetic diagnostics, offering a comprehensive range of tests that cater to various genetic conditions. Among these, the SGSH Gene Mucopolysaccharidosis Type 3A Genetic Test is a pivotal service provided by the laboratory, designed to diagnose a condition that is both complex and rare. This article delves into […]
Symptoms and Testing information for NAGLU Gene Mucopolysaccharidosis Type 3B Genetic Test
Mucopolysaccharidosis Type IIIB, also known as Sanfilippo Syndrome Type B, is a rare genetic disorder that affects the body’s ability to break down certain types of sugar molecules called glycosaminoglycans (previously known as mucopolysaccharides). This condition is caused by a mutation in the NAGLU gene, which leads to a deficiency in the alpha-N-acetylglucosaminidase enzyme. As […]
Symptoms and Testing information for HGSNAT Gene Mucopolysaccharidosis Type 3C Genetic Test
Mucopolysaccharidosis Type III, commonly known as Sanfilippo Syndrome, is a rare, inherited metabolic disorder characterized by the body’s inability to properly break down certain sugars called glycosaminoglycans. This condition is divided into four subtypes (A, B, C, and D), each caused by a deficiency in one of the four enzymes required for the stepwise degradation […]
Symptoms and Testing information for GNS Gene Mucopolysaccharidosis Type 3D Genetic Test
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 […]
Symptoms and Testing information for SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test
Symptoms of SLC25A3 Gene Mitochondrial Phosphate Carrier Deficiency Genetic Test The SLC25A3 gene plays a crucial role in the proper functioning of our cells, specifically within the mitochondria, which are often referred to as the powerhouses of the cell. A deficiency in the mitochondrial phosphate carrier, which is encoded by the SLC25A3 gene, can lead […]
Symptoms and Testing information for GALNS Gene Mucopolysaccharidosis Type 4A Genetic Test
Mucopolysaccharidosis Type IVA (MPS IVA), also known as Morquio Syndrome type A, is a rare genetic disorder caused by a deficiency in the enzyme N-acetylgalactosamine-6-sulfatase (GALNS). This enzyme is crucial for the breakdown and recycling of glycosaminoglycans (GAGs) in the body. Without it, GAGs accumulate in cells, blood, and connective tissues, leading to progressive systemic […]
Symptoms and Testing information for MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test
Understanding the symptoms and early detection of Mitochondrial Pyruvate Carrier Deficiency (MPCD) is crucial for managing this rare genetic disorder effectively. At DNA Labs UAE, we specialize in providing comprehensive genetic testing services, including the MPC1 Gene Mitochondrial Pyruvate Carrier Deficiency Genetic Test. This test is designed to diagnose individuals suspected of having MPCD, a […]
Symptoms and Testing information for GLB1 Gene Mucopolysaccharidosis Type 4B Genetic Test
Mucopolysaccharidosis Type 4B (MPS 4B), also known as Morquio Syndrome type B, is a rare genetic disorder caused by mutations in the GLB1 gene. This condition is characterized by a deficiency in the beta-galactosidase enzyme, leading to the accumulation of glycosaminoglycans (GAGs) in various tissues and organs. The buildup of these substances can cause a […]
Symptoms and Testing information for MMAB Gene Methylmalonic Aciduria CblB Type Genetic Test
Methylmalonic Aciduria (MMA) CblB type is a rare genetic disorder that affects the body’s ability to process certain fats and proteins properly, leading to a buildup of methylmalonic acid in the blood. This condition is caused by mutations in the MMAB gene, which plays a crucial role in the metabolism of certain amino acids, fats, […]