Alkaptonuria, a rare genetic disorder, affects one in every 250,000 to 1 million individuals worldwide. This condition arises due to a deficiency in the enzyme homogentisate 1,2-dioxygenase (HGD), which is crucial for breaking down the amino acids tyrosine and phenylalanine. The lack of this enzyme’s activity leads to the accumulation of homogentisic acid in the […]
Metabolic Disorders
Symptoms and Testing information for A2M Gene Alpha-2-Macroglobulin Deficiency Genetic Test
Symptoms of A2M Gene Alpha-2-Macroglobulin Deficiency Genetic Test Alpha-2-Macroglobulin (A2M) is a significant plasma protein with a crucial role in the body’s immune response and inflammation regulation. A deficiency in the A2M gene can lead to a range of health issues, which makes it essential for individuals experiencing certain symptoms to undergo genetic testing. DNA […]
Symptoms and Testing information for OGDH Gene Alpha-Ketoglutarate Dehydrogenase Deficiency Genetic Test
Symptoms of OGDH Gene Alpha-Ketoglutarate Dehydrogenase Deficiency Genetic Test The OGDH gene is responsible for encoding a subunit of the alpha-ketoglutarate dehydrogenase complex, an enzyme critical for the Krebs cycle, a key energy-producing process in the mitochondria. Deficiency in this enzyme due to mutations in the OGDH gene can lead to a range of metabolic […]
Symptoms and Testing information for AMACR Gene Alpha-Methylacyl CoA Racemase Deficiency Genetic Test
Understanding the symptoms and implications of AMACR gene alpha-methylacyl CoA racemase deficiency is crucial for early diagnosis and treatment. This genetic condition, while rare, can have significant impacts on an individual’s health. DNA Labs UAE offers a comprehensive genetic test to identify this deficiency, ensuring that individuals and families have the necessary information for informed […]
Symptoms and Testing information for ACY1 Gene Aminoacylase Deficiency Genetic Test
Understanding ACY1 Gene Aminoacylase Deficiency Aminoacylase 1 deficiency is a rare genetic disorder caused by mutations in the ACY1 gene. This condition can lead to a variety of symptoms and health issues, primarily affecting the body’s ability to metabolize certain amino acids properly. The ACY1 gene encodes the enzyme aminoacylase 1, which is crucial for […]
Symptoms and Testing information for AMPD3 Gene AMP Deaminase Deficiency Erythrocytic Genetic Test
The AMPD3 gene plays a critical role in the metabolism of adenosine monophosphate (AMP) to inosine monophosphate (IMP) in red blood cells. A deficiency in AMP deaminase, caused by mutations in the AMPD3 gene, can lead to a specific condition known as erythrocytic AMP deaminase deficiency. This genetic disorder impacts the stability and functionality of […]
Symptoms and Testing information for APOA1 Gene Amyloidosis Familial Visceral Genetic Test
Understanding APOA1 Gene Amyloidosis Familial Visceral Genetic Test Amyloidosis is a rare disease caused by an abnormal deposition of amyloid, a protein, in various tissues and organs of the body. There are several types of amyloidosis, each associated with different genes and proteins. One such type is familial visceral amyloidosis, which is linked to mutations […]
Symptoms and Testing information for ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Genetic Test
Symptoms of ACADS Gene Acyl-CoA Short-Chain Dehydrogenase Deficiency Acyl-CoA Short-Chain Dehydrogenase Deficiency (ACADSD) is a rare genetic disorder that affects the body’s ability to break down certain fats into energy, particularly during periods of fasting. This condition is caused by mutations in the ACADS gene, which plays a critical role in the metabolism of short-chain […]
Symptoms and Testing information for GBE1 Gene Andersen Disease Genetic Test
DNA Labs UAE is at the forefront of genetic testing, offering a comprehensive range of services designed to provide individuals with insights into their genetic makeup. One of the critical tests offered by DNA Labs UAE is the GBE1 Gene Andersen Disease Genetic Test. This test is crucial for diagnosing Andersen Disease, also known as […]
Symptoms and Testing information for ACADVL Gene Acyl-CoA Very Long-Chain Dehydrogenase Deficiency Genetic Test
ACADVL gene acyl-CoA very long-chain dehydrogenase deficiency, commonly known as VLCAD deficiency, is a rare genetic disorder that affects the body’s ability to break down certain fats into energy, particularly during periods of fasting or illness. This condition is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of […]