Methylmalonic aciduria (MMA) is a rare genetic disorder that affects the body’s ability to metabolize certain fats and proteins, leading to a buildup of methylmalonic acid in the blood. One specific form of this condition, known as the cblA type, is caused by mutations in the MMAA gene. This particular variant of methylmalonic aciduria can […]
Metabolic Disorders
Symptoms and Testing information for MMAB Gene Methylmalonic Aciduria CblB Type Genetic Test
Methylmalonic Aciduria (MMA) CblB type is a rare genetic disorder that affects the body’s ability to process certain fats and proteins properly, leading to a buildup of methylmalonic acid in the blood. This condition is caused by mutations in the MMAB gene, which plays a crucial role in the metabolism of certain amino acids, fats, […]
Symptoms and Testing information for MMACHC Gene Methylmalonic Aciduria CblC Type Genetic Test
Methylmalonic aciduria CblC type, caused by mutations in the MMACHC gene, is a rare genetic disorder that can have significant implications on an individual’s health. Understanding the symptoms of this condition is crucial for early diagnosis and management. DNA Labs UAE offers a genetic test specifically designed to identify mutations in the MMACHC gene, providing […]
Symptoms and Testing information for MMADHC Gene Methylmalonic Aciduria CblD Type Genetic Test
Methylmalonic aciduria and homocystinuria, cblD type, is a rare genetic disorder that arises from mutations in the MMADHC gene. This condition can lead to a variety of health issues, ranging from mild to severe. It is part of a group of disorders that affect the metabolism of certain parts of vitamins (like vitamin B12) which […]
Symptoms and Testing information for LMBRD1 Gene Methylmalonic Aciduria CblF Type Genetic Test
Methylmalonic Aciduria (MMA) CblF type is a rare genetic disorder that affects the body’s ability to process certain parts of proteins and fats properly. This condition is caused by mutations in the LMBRD1 gene, leading to a deficiency in the synthesis of a protein essential for vitamin B12 metabolism. The inability to metabolize vitamin B12 […]
Symptoms and Testing information for ABCD4 Gene Methylmalonic Aciduria CblJ Type Genetic Test
Methylmalonic Aciduria, specifically the CblJ type caused by mutations in the ABCD4 gene, is a rare genetic disorder that can have significant health implications for those affected. Understanding the symptoms and the availability of genetic testing is crucial for early diagnosis and management. DNA Labs UAE offers a comprehensive genetic test for this condition, helping […]
Symptoms and Testing information for CD320 Gene Methylmalonic Aciduria CblR Type Genetic Test
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. […]
Symptoms and Testing information for MMUT Gene Methylmalonic Aciduria Due to Methylmalonyl-CoA Mutase Deficiency Genetic Test
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 […]
Symptoms and Testing information for MCEE Gene Methylmalonyl-CoA Epimerase Deficiency Genetic Test
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 […]
Symptoms and Testing information for DBT Gene Maple Syrup Urine Disease Type 2 Genetic Test
Maple Syrup Urine Disease (MSUD) is a rare but serious inherited condition that affects the body’s ability to process certain amino acids, leading to a buildup of these substances in the body. This condition gets its name from the distinctive sweet odor of affected infants’ urine, reminiscent of maple syrup. Type 2 MSUD, specifically related […]