Fructose intolerance is a condition that affects the way your body metabolizes fructose, a type of sugar found in fruits, some vegetables, and honey. While most people can process fructose without any issues, those with a genetic mutation in the ALDOB gene may suffer from hereditary fructose intolerance (HFI). This condition can lead to serious […]
Metabolic Disorders
Symptoms and Testing information for SLC2A5 Gene Fructose uptake deficiency SLC2A5 related Genetic Test
Fructose uptake deficiency, caused by mutations in the SLC2A5 gene, is a rare genetic disorder that affects the body’s ability to absorb fructose properly. This condition can lead to a range of symptoms that may significantly impact an individual’s health and quality of life. Understanding these symptoms is crucial for early diagnosis and management of […]
Symptoms and Testing information for FBP1 Gene Fructose-16-bisphosphatase deficiency Genetic Test
Fructose-1,6-bisphosphatase deficiency is a rare, inherited metabolic disorder affecting the liver’s ability to properly metabolize fructose and glycogen. This condition is caused by mutations in the FBP1 gene, which plays a crucial role in gluconeogenesis, the process of producing glucose from non-carbohydrate sources. Individuals with this deficiency can experience a range of symptoms, particularly during […]
Symptoms and Testing information for KHK Gene Fructosuria essential Genetic Test
In the realm of genetic testing, advancements have paved the way for the identification and understanding of various genetic disorders, one of which is Fructosuria. Caused by a deficiency in the enzyme fructokinase, due to mutations in the KHK gene, this condition is often underdiagnosed or misdiagnosed due to its benign nature and the lack […]
Symptoms and Testing information for FUCA1 Gene Fucosidosis Genetic Test
Fucosidosis is a rare genetic disorder that stems from the deficiency of the enzyme alpha-L-fucosidase, which is crucial for the breakdown of certain complex molecules in the body. This deficiency leads to an accumulation of these molecules in various tissues, affecting normal bodily functions. The FUCA1 gene, responsible for encoding the enzyme alpha-L-fucosidase, is at […]
Symptoms and Testing information for FANCI Gene Fanconi anemia type I Genetic Test
Fanconi anemia is a rare genetic disorder that affects the bone marrow, leading to decreased production of all types of blood cells. Among the genes associated with this condition, the FANCI gene plays a crucial role. Mutations in the FANCI gene can lead to Fanconi anemia type I, characterized by physical abnormalities, bone marrow failure, […]
Symptoms and Testing information for FH Gene Fumarase deficiency Genetic Test
Fumarase deficiency, also known as Fumaric Aciduria, is a rare genetic disorder that affects the mitochondrial function, leading to a range of physical and developmental challenges. This condition is caused by mutations in the FH gene, which plays a crucial role in the Krebs cycle, a key energy-producing process in cells. Recognizing the symptoms of […]
Symptoms and Testing information for BRIP1 Gene Fanconi anemia type J Genetic Test
At DNA Labs UAE, we are committed to providing advanced genetic testing services to help individuals and families understand their genetic health. One of the critical tests we offer is for the BRIP1 gene, associated with Fanconi anemia type J. This article aims to provide comprehensive information on the symptoms of this condition and details […]
Symptoms and Testing information for ABAT Gene GABA-transaminase deficiency Genetic Test
Symptoms of ABAT Gene GABA-Transaminase Deficiency Genetic Test GABA-transaminase deficiency, caused by mutations in the ABAT gene, is a rare genetic disorder that impacts the central nervous system. The ABAT gene plays a critical role in the metabolism of gamma-aminobutyric acid (GABA), an important neurotransmitter in the brain responsible for reducing neuronal excitability. Mutations in […]
Symptoms and Testing information for CYP2B6 Gene Efavirenz poor metabolism of Genetic Test
Symptoms of CYP2B6 Gene Efavirenz Poor Metabolism of Genetic Test The CYP2B6 gene plays a pivotal role in the metabolism of various substances within the body, including the antiretroviral medication, Efavirenz, which is commonly used in the treatment of HIV. Variations in the CYP2B6 gene can lead to poor metabolism of Efavirenz, resulting in higher […]