Understanding Biotinidase Deficiency Biotinidase deficiency is a rare genetic disorder that prevents the body from releasing free biotin, a vital vitamin (B7) necessary for the healthy functioning of several bodily processes. This condition can lead to a variety of health issues if left undiagnosed or untreated. Biotin plays a crucial role in converting certain nutrients […]
The ABCD3 gene plays a critical role in the synthesis of bile acids, which are essential for the digestion and absorption of fats and fat-soluble vitamins. A defect in this gene can lead to a rare but serious condition known as bile acid synthesis defect type 5. This congenital genetic disorder can have significant implications […]
Bile acid synthesis defects are a group of rare metabolic disorders that result from genetic mutations affecting the normal production of bile acids. These acids play a crucial role in the digestion and absorption of fats and fat-soluble vitamins in the intestines. Among these conditions, Type 4 congenital bile acid synthesis defect, caused by mutations […]
The CYP7B1 gene plays a critical role in the synthesis of bile acids, which are essential for the digestion and absorption of fats and fat-soluble vitamins in the intestines. A defect in this gene can lead to a rare congenital disorder known as bile acid synthesis defect type 3. This condition can have significant health […]
Bile acid synthesis defects are rare genetic disorders that affect the body’s ability to produce bile acids properly. These acids play a critical role in the digestion and absorption of fats and fat-soluble vitamins. One such disorder is the bile acid synthesis defect type 2, caused by mutations in the AKR1D1 gene. This condition can […]
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 […]
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 […]
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 […]
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 […]
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 […]
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.
