Metabolic Disorders

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 […]

In the realm of genetic diagnostics, DNA Labs UAE stands at the forefront, offering a wide array of genetic testing services designed to provide insights into various genetic disorders. Among these, the PSAT1 Gene Phosphoserine Aminotransferase Deficiency Genetic Test is pivotal for individuals experiencing symptoms associated with this rare but significant metabolic disorder. This test, […]

At DNA Labs UAE, we specialize in providing comprehensive genetic testing services, including the PDHB Gene Pyruvate Dehydrogenase E1-Beta Deficiency Genetic Test. Pyruvate dehydrogenase E1-beta deficiency is a rare metabolic disorder that affects the way cells produce energy. This condition can lead to a range of health issues, from mild to severe. Understanding the symptoms […]

Understanding the symptoms of PSPH gene phosphoserine phosphatase deficiency is crucial for early diagnosis and management of this rare genetic disorder. DNA Labs UAE offers a comprehensive genetic test for this condition, providing a vital resource for individuals and families seeking answers. This article explores the symptoms associated with PSPH gene phosphoserine phosphatase deficiency and […]

Symptoms of DLAT Gene Pyruvate Dehydrogenase E2 Deficiency Genetic Test The DLAT gene plays a crucial role in the proper functioning of the pyruvate dehydrogenase complex, which is essential for converting carbohydrates into energy. A deficiency in the E2 component, encoded by the DLAT gene, can lead to a range of symptoms and health issues. […]