Metabolic Disorders

Understanding the nuances of genetic conditions is crucial for both patients and healthcare providers. One such condition, Muscle Glycogenosis, associated with the PHKA1 gene, presents a unique set of challenges and symptoms. DNA Labs UAE is at the forefront of diagnosing this condition through comprehensive genetic testing. The PHKA1 Gene Muscle Glycogenosis Genetic Test is […]

Phosphoenolpyruvate Carboxykinase (PCK1) deficiency is a rare genetic disorder that affects the body’s ability to regulate glucose production. This condition is characterized by an inability to properly convert certain substances in the liver into glucose, leading to hypoglycemia and other related symptoms. Understanding the symptoms and undergoing timely genetic testing can significantly aid in managing […]

Myoadenylate Deaminase Deficiency (MADD), also known as AMPD1 gene myopathy, is a rare genetic condition that affects muscle metabolism. This condition is caused by mutations in the AMPD1 gene, leading to a deficiency in the enzyme myoadenylate deaminase. This enzyme plays a crucial role in the energy production process within muscle cells. Individuals with MADD […]

— Understanding the symptoms of PCK2 Gene Phosphoenolpyruvate Carboxykinase Deficiency is crucial for early diagnosis and management of this rare metabolic disorder. At DNA Labs UAE, we offer a comprehensive mitochondrial genetic test specifically designed to identify mutations in the PCK2 gene, which plays a significant role in gluconeogenesis, the process of producing glucose from […]

N-Acetylglutamate Synthase (NAGS) deficiency is a rare genetic disorder that can lead to severe metabolic complications if not diagnosed and managed appropriately. This condition affects the body’s ability to produce a crucial enzyme needed for the urea cycle, which is responsible for removing ammonia from the bloodstream. High levels of ammonia can be toxic and […]

Symptoms of PHGDH Gene Phosphoglycerate Dehydrogenase Deficiency Phosphoglycerate dehydrogenase (PHGDH) deficiency is a rare genetic disorder that can significantly impact an individual’s health. This condition arises from mutations in the PHGDH gene, which plays a crucial role in the biosynthesis of serine, an amino acid essential for various physiological processes. Understanding the symptoms of PHGDH […]

NEU1 gene neuraminidase deficiency, also known as sialidosis, is a rare genetic disorder that affects the body’s ability to properly break down certain complex molecules. This condition can lead to a wide range of symptoms, varying significantly in severity from person to person. Understanding these symptoms is crucial for early diagnosis and treatment. DNA Labs […]

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 […]

Niemann-Pick disease type C1 (NPC1) is a rare genetic disorder that affects the body’s ability to metabolize cholesterol and other lipids within cells. This leads to an accumulation of these substances in various tissues, which can cause a wide range of symptoms. Understanding these symptoms is crucial for early diagnosis and management of the condition. […]

Mucopolysaccharidosis Type II (MPS II), also known as Hunter syndrome, is a rare, inherited genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This enzyme deficiency leads to the accumulation of glycosaminoglycans (GAGs) in various body tissues, causing a range of symptoms that can affect appearance, physical abilities, organ and system functioning, and, in […]