Symptoms of ARG1 Gene Arginase Deficiency Genetic Test The ARG1 gene plays a crucial role in the urea cycle, a series of biochemical processes in the liver that help remove ammonia from the bloodstream. Ammonia is a toxic byproduct of protein metabolism, and its accumulation in the body can lead to serious health issues. Arginase […]
Metabolic Disorders
Symptoms and Testing information for GATM Gene Arginine-glycine amidinotransferase deficiency Genetic Test
In the realm of genetic testing and diagnosis, understanding the intricacies of various genetic conditions is paramount for effective treatment and management. One such condition that has garnered attention is the deficiency related to the GATM gene, known for its role in the arginine-glycine amidinotransferase enzyme. This deficiency can lead to a range of symptoms […]
Symptoms and Testing information for ASL Gene Argininosuccinic aciduria Genetic Test
Argininosuccinic aciduria is a rare but serious inherited disorder that affects the body’s ability to properly process certain proteins. This condition is part of a group of disorders known as urea cycle disorders, which can lead to a buildup of ammonia in the bloodstream. Early diagnosis and treatment are crucial for managing symptoms and preventing […]
Symptoms and Testing information for DDC Gene Aromatic L-amino acid decarboxylase deficiency AADC Genetic Test
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare genetic disorder that affects the way signals are passed between cells in the nervous system. This condition is caused by mutations in the DDC gene, which leads to a deficiency in the AADC enzyme. This enzyme is crucial for the synthesis of neurotransmitters such as dopamine […]
Symptoms and Testing information for ASNS Gene Asparaginesynthetase deficiency Genetic Test
Understanding the complexities of genetic conditions is crucial in the medical field today. One such condition that has garnered attention is the deficiency related to the ASNS gene, known as Asparagine Synthetase Deficiency. This condition, while rare, can lead to significant health complications if not diagnosed and managed properly. DNA Labs UAE is at the […]
Symptoms and Testing information for AGA Gene Aspartylglucosaminuria Genetic Test
Aspartylglucosaminuria (AGA) is a rare genetic disorder that affects the body’s ability to break down certain types of sugars and proteins. This condition, caused by mutations in the AGA gene, leads to the accumulation of harmful substances in the body, which can affect various organs and tissues, particularly the brain and nervous system. Recognizing the […]
Symptoms and Testing information for ST6GAL2 Gene Beta-Galactosamide alpha-26-Sialyltransferase 2 deficiency Genetic Test
In the realm of genetic diagnostics, understanding the implications of specific gene deficiencies is paramount for early detection and management of potential health issues. One such genetic condition that has garnered attention is the deficiency of the ST6GAL2 gene, known for encoding the enzyme Beta-Galactosamide alpha-2,6-Sialyltransferase 2. This enzyme plays a crucial role in the […]
Symptoms and Testing information for UPB1 Gene Beta-ureidopropionase deficiency Genetic Test
Understanding UPB1 Gene Beta-ureidopropionase Deficiency Beta-ureidopropionase deficiency is a rare genetic disorder that affects the body’s ability to properly metabolize certain proteins. This condition is caused by mutations in the UPB1 gene, which plays a critical role in the breakdown process of uracil and thymine, two of the four nucleobases in the structure of DNA […]
Symptoms and Testing information for SLC10A2 Gene Bile acid malabsorption primary Genetic Test
Bile acid malabsorption (BAM) is a condition that can cause a range of gastrointestinal symptoms, significantly impacting an individual’s quality of life. One of the primary genetic causes of this condition is mutations in the SLC10A2 gene. Understanding the symptoms and getting a timely diagnosis is crucial for managing the condition effectively. DNA Labs UAE […]
Symptoms and Testing information for HSD3B7 Gene Bile acid synthesis defect type 1 congenital Genetic Test
Bile acids play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the small intestine. The synthesis of bile acids is a complex biochemical pathway involving multiple enzymes. A defect in any of these enzymes can lead to a bile acid synthesis disorder, which can have significant health implications. One […]