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Symptoms and Testing information for HPD Gene Hawkinsinuria Genetic Test

Hawkinsinuria, a rare metabolic disorder, is caused by mutations in the HPD gene. This condition can lead to a variety of symptoms, significantly impacting an individual’s health. Fortunately, advancements in genetic testing, such as those offered by DNA Labs UAE, have made it possible to identify carriers of the HPD gene mutation and diagnose Hawkinsinuria

Symptoms and Testing information for ALG13 Gene Glycosylation Disorder Type 1S Genetic Test

— ALG13 gene glycosylation disorder type 1S is a rare genetic condition that affects various systems in the body. This disorder is caused by mutations in the ALG13 gene, which plays a crucial role in the glycosylation process. Glycosylation is a biochemical process that attaches glycans (sugars) to proteins or lipids, which is essential for

Symptoms and Testing information for DPM2 Gene Glycosylation Disorder Type 1U Genetic Test

Symptoms of DPM2 Gene Glycosylation Disorder Type 1U Genetic Test Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic disorders that affect the process of glycosylation – the attachment of sugars to proteins and lipids. One specific type, the DPM2 gene glycosylation disorder type 1U (CDG-1U), is a rare but significant condition

Symptoms and Testing information for SLC6A9 Gene Glycine encephalopathy with normal serum glycine Genetic Test

Glycine encephalopathy, also known as non-ketotic hyperglycinemia (NKH), is a rare genetic disorder characterized by an excess of glycine in the body’s tissues and fluids. This condition is typically associated with mutations in the genes responsible for the glycine cleavage system, a critical enzyme complex necessary for the metabolism of glycine. Among these genes, mutations

Symptoms and Testing information for GAA Gene Glycogen storage disease type 2 Genetic Test

Symptoms of GAA Gene Glycogen Storage Disease Type 2 Glycogen Storage Disease Type 2 (GSD II), also known as Pompe disease, is a rare genetic disorder that affects the muscles and the heart. It results from mutations in the GAA gene, which leads to the accumulation of glycogen in the lysosomes of cells. This accumulation

Symptoms and Testing information for GALT Gene Galactosemia Genetic Test

Galactosemia is a rare genetic metabolic disorder that affects an individual’s ability to metabolize the sugar galactose properly. It is caused by mutations in the GALT gene, which encodes the enzyme galactose-1-phosphate uridylyltransferase. This enzyme is crucial for the normal processing of galactose, a sugar found in all foods that contain milk. When the GALT

Symptoms and Testing information for GCDH Gene Glutaric acidemia type 1 Genetic Test

Symptoms of GCDH Gene Glutaric Acidemia Type 1 Glutaric acidemia type 1 is a rare genetic disorder that affects the body’s ability to process certain types of amino acids properly. This condition is caused by mutations in the GCDH gene, leading to an accumulation of harmful substances in the body, which can damage the brain

Symptoms and Testing information for SUGCT Gene Glutaric aciduria type 3 Genetic Test

Genetic testing has become a cornerstone in the diagnosis and management of various inherited disorders. One such condition that has garnered attention is Glutaric aciduria type 3, linked to mutations in the SUGCT gene. DNA Labs UAE is at the forefront of providing comprehensive genetic testing services, including for Glutaric aciduria type 3. This article

Symptoms and Testing information for ALDOB Gene Fructose intolerance Genetic Test

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

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