Metabolic Disorders

In the realm of genetic testing and diagnosis, the advancements have been monumental, offering insights into conditions that were once shrouded in mystery. Among these conditions is Methylmalonic Aciduria (MMA), specifically the CblR type, caused by mutations in the CD320 gene. This condition, while rare, can have significant impacts on those affected and their families. […]

Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, or MMUT gene methylmalonic aciduria, is a rare genetic disorder that can lead to various health issues, including developmental delays, metabolic crises, and in severe cases, life-threatening complications. Understanding the symptoms and undergoing genetic testing for this condition can be crucial for early diagnosis and management. DNA Labs […]

In the realm of genetic disorders, Methylmalonyl-CoA Epimerase Deficiency, linked to mutations in the MCEE gene, stands out due to its rare occurrence and potentially severe symptoms. DNA Labs UAE, a leading genetic laboratory, offers a comprehensive genetic test for this condition, aiming to provide crucial information for early diagnosis and management. The test, priced […]

Mevalonic aciduria is a rare genetic disorder that affects the body’s ability to metabolize certain lipids properly. This condition is caused by mutations in the MVK gene, which plays a crucial role in the mevalonate pathway, a key pathway in the synthesis of cholesterol and isoprenoids. These substances are vital for various cellular processes, including […]

In the realm of medical advancements and genetic testing, understanding the complexities of chronic diseases has become increasingly accessible. One such advancement is the genetic test for VEGFA gene microvascular complications in Diabetes Type 1, offered by DNA Labs UAE. This genetic test is pivotal for individuals seeking to understand their risk factors and manage […]

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, more commonly known as MELAS syndrome, is a rare genetic disorder that affects multiple systems of the body, particularly the brain and the muscles. This condition is primarily caused by mutations in the mitochondrial DNA, specifically in the MT-TL1 gene. Understanding the symptoms and the importance of […]

Diabetes mellitus, a chronic metabolic disorder characterized by high blood sugar levels, is a global health concern. Among its various types, Type 6 diabetes, although less common, poses significant health risks, including microvascular complications. These complications primarily affect small blood vessels, leading to severe conditions such as retinopathy, nephropathy, and neuropathy. Recent advancements in genetic […]

Metachromatic leukodystrophy (MLD) is a rare genetic disorder that affects the body’s ability to produce the enzyme arylsulfatase A (ARSA). Without sufficient levels of this enzyme, sulfatides accumulate in the brain, kidneys, and other tissues, leading to progressive damage. The ARSA gene is responsible for the production of the arylsulfatase A enzyme. Mutations in this […]

Understanding SAMD9 Gene Mirage Syndrome Mirage Syndrome, scientifically known as SAMD9-related disorder, is a rare genetic condition that affects various parts of the body. It is caused by mutations in the SAMD9 gene, which plays a crucial role in the regulation of cell proliferation and survival. Individuals with Mirage Syndrome may experience a wide range […]

Diabetes, a chronic condition affecting millions worldwide, manifests in various forms, with Maturity-onset Diabetes of the Young (MODY) being one of the less common types. Among the MODY subtypes, Type 10, linked to mutations in the INS gene, is of particular interest to both researchers and clinicians. DNA Labs UAE, a leading genetic testing facility, […]