Carbamoylphosphate synthetase I deficiency (CPS1 deficiency) is a rare genetic disorder that affects the urea cycle, a series of biochemical processes in the liver responsible for removing ammonia from the bloodstream. Ammonia, a byproduct of protein metabolism, is toxic if not properly eliminated from the body. The CPS1 gene encodes an enzyme that plays a […]
Carnitine deficiency is a genetic condition that affects the body’s ability to metabolize fats into energy, particularly during periods of fasting or exercise. This deficiency can lead to various symptoms and health issues, ranging from mild to severe. The SLC22A5 gene plays a crucial role in the transport of carnitine into cells, and mutations in […]
Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain fats into energy, particularly during periods of fasting or illness. This condition is caused by mutations in the CPT1A gene, leading to a deficiency or malfunctioning of the enzyme carnitine palmitoyltransferase 1A. This enzyme plays a critical […]
Carnitine palmitoyltransferase 1B (CPT1B) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain types of fats into energy, particularly during periods of fasting or physical stress. This condition, which falls under the broader category of fatty acid oxidation disorders, can lead to various symptoms and health issues if not identified […]
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize long-chain fatty acids. This metabolic condition, particularly in its infantile form, can lead to severe and potentially life-threatening symptoms if not diagnosed and managed promptly. DNA Labs UAE offers a comprehensive genetic test for the CPT2 gene to […]
Carnitine palmitoyltransferase 2 (CPT2) deficiency is a rare genetic disorder that affects the body’s ability to metabolize certain types of fats. This condition, particularly in its lethal neonatal form, is a severe metabolic disorder that can lead to serious health complications and, if untreated, can be fatal shortly after birth. DNA Labs UAE offers a […]
Understanding the implications of genetic disorders is crucial for early diagnosis and management. One such disorder, Carnitine-acylcarnitine translocase (CACT) deficiency, is a rare but severe condition that affects the body’s ability to convert certain fats into energy, particularly during fasting or illness. This disorder is caused by mutations in the SLC25A20 gene. DNA Labs UAE […]
The COMT (Catechol-O-Methyltransferase) gene plays a critical role in the metabolic process of catecholamines, such as dopamine, epinephrine, and norepinephrine. These neurotransmitters are essential for various bodily functions, including mood regulation, cognition, and response to stress. A deficiency in the COMT enzyme can lead to a variety of symptoms and conditions, making it crucial for […]
Symptoms of PPT1 Gene Ceroid Lipofuscinosis Neuronal Type 1 Genetic Test Ceroid lipofuscinosis neuronal type 1 (CLN1), also known as infantile Batten disease, is a rare and fatal autosomal recessive neurodegenerative disorder that primarily affects the nervous system. It is caused by mutations in the PPT1 gene, which leads to the accumulation of lipopigments in […]
In the realm of genetic testing, understanding the nuances of specific gene deficiencies is crucial for both patients and medical professionals. Among these, the APOC2 gene, responsible for encoding Apolipoprotein C-II (ApoC-II), plays a pivotal role in lipid metabolism. Deficiencies in this gene can lead to a rare but serious condition known as Apolipoprotein C-II […]
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.
