Propionic Acidemia is a rare genetic disorder caused by the deficiency of the propionyl-CoA carboxylase enzyme. This enzyme plays a crucial role in breaking down certain proteins and fats in the body. The deficiency leads to an accumulation of propionic acid, which can be toxic and cause serious health issues. The condition is inherited in […]
Symptoms of PCCB Gene Propionic Acidemia Genetic Test Propionic Acidemia is a rare genetic disorder caused by the deficiency of the PCCB gene, which is essential for breaking down certain parts of proteins and lipids. Without proper function of this gene, harmful amounts of organic acids can accumulate in the body, leading to severe health […]
Symptoms of PSAP Gene Prosaposin Deficiency Genetic Test Understanding the complexities of genetic disorders is crucial in the realm of medical science, especially when it comes to conditions like PSAP gene prosaposin deficiency. This rare genetic disorder affects the body’s ability to produce prosaposin, a vital protein necessary for the normal functioning of lysosomal enzymes. […]
The ALAS2 gene is responsible for a condition known as X-linked protoporphyria (XLP), a form of erythropoietic protoporphyria (EPP). This rare genetic disorder is characterized by a deficiency in the enzyme ALAS2, which plays a crucial role in the heme synthesis pathway. The deficiency leads to an accumulation of protoporphyrin IX in the body, causing […]
In the intricate world of genetics, understanding the nuances of specific genes and their impact on human health is paramount. One such gene, HSD17B3, plays a crucial role in the development of sexual characteristics in males. Mutations in this gene can lead to a condition known as HSD17B3 gene pseudohermaphroditism with gynecomastia, a complex interplay […]
Symptoms of PNPO Gene Pyridoxamine 5′-Phosphate Oxidase Deficiency PNPO gene pyridoxamine 5′-phosphate oxidase deficiency is a rare but serious genetic disorder that affects the body’s ability to process vitamin B6, leading to a variety of neurological symptoms. Recognizing the symptoms early is crucial for timely intervention and management of the condition. The deficiency impairs the […]
Symptoms of PC Gene Pyruvate Carboxylase Deficiency Genetic Test Pyruvate carboxylase deficiency is a rare genetic disorder that affects the body’s ability to convert carbohydrates and sugars into energy. This condition, stemming from mutations in the PC gene, leads to an accumulation of lactic acid and a range of metabolic complications. Understanding the symptoms of […]
Understanding PRPS1 Gene Phosphoribosylpyrophosphate Synthetase Superactivity Phosphoribosylpyrophosphate Synthetase Superactivity, caused by mutations in the PRPS1 gene, is a rare genetic disorder that can lead to a range of health issues, including neurological disorders, gout, and kidney stones. The PRPS1 gene plays a crucial role in the biosynthesis of purine and pyrimidine nucleotides, which are essential […]
Symptoms of PDHA1 Gene Pyruvate Dehydrogenase E1-Alpha Deficiency Genetic Test The PDHA1 gene plays a critical role in the body’s energy production process. It encodes the E1-alpha subunit of the pyruvate dehydrogenase complex, which is essential for converting pyruvate into acetyl-CoA, a key molecule in energy production. Mutations in the PDHA1 gene can lead to […]
Niemann-Pick disease type A and B is a rare genetic disorder caused by mutations in the SMPD1 gene. This condition significantly impacts the body’s ability to metabolize cholesterol and other lipids within the cells, leading to harmful accumulation. The severity and symptoms can vary widely among affected individuals, ranging from non-neurological manifestations in type B […]
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.
