Short Description

Alpha-aminoadipic aciduria is an autosomal recessive metabolic disorder characterized by increased urinary excretion of alpha-ketoadipic acid and alpha-aminoadipic acid.

PreTest Information

Consult a doctor/ genetic counsellor before undergoing this test

Detail Description

Alpha Amino Adipic Aciduria Test: Cost, Symptoms, and Diagnosis

Alpha amino adipic aciduria is a rare genetic disorder that affects the metabolism of lysine, an essential amino acid. This disorder is caused by a mutation in the DHTKD1 gene, which leads to the accumulation of alpha-aminoadipic acid in the urine. The excess of this acid can damage the brain, causing intellectual disability, seizures, and other neurological problems.

Symptoms of Alpha Amino Adipic Aciduria

The symptoms of alpha amino adipic aciduria may vary from person to person, depending on the severity of the disease. However, some common symptoms include:

• Intellectual disability
• Seizures
• Muscle weakness
• Delayed development
• Speech problems
• Behavioral problems

Diagnosis of Alpha Amino Adipic Aciduria

Alpha amino adipic aciduria can be diagnosed through a urine test that measures the levels of alpha-aminoadipic acid. If the levels are high, further testing may be required to confirm the diagnosis. Genetic testing can also be done to identify the specific mutation that causes the disorder.

Cost of Alpha Amino Adipic Aciduria Test in India

The cost of the alpha amino adipic aciduria test in India may vary depending on the location and the laboratory. However, on average, the cost of this test is around INR 10,000.

Conclusion

Alpha amino adipic aciduria is a rare genetic disorder that can cause severe neurological problems. Early diagnosis and treatment can help manage the symptoms and improve the quality of life of affected individuals. If you suspect that you or your child may have this disorder, it is important to consult a healthcare professional and get tested.

DNA Labs India offers a wide range of genetic testing services, including alpha amino adipic aciduria testing, at an affordable cost. Our team of experts uses the latest technology and techniques to provide accurate and reliable results. Contact us today to learn more.