Symptoms of Amino Acid Non-Ketotic Hyperglycinemia Panel Quantitative CSF and Plasma Test
Amino Acid Non-Ketotic Hyperglycinemia, also known as Glycine Encephalopathy, is a rare genetic disorder that primarily affects the nervous system. It is characterized by an excessive accumulation of glycine in the body, particularly in the cerebrospinal fluid (CSF) and plasma, due to a deficiency in the enzyme system responsible for the breakdown of this amino acid. DNA Labs UAE offers a comprehensive panel to quantify the levels of glycine in both CSF and plasma, aiding in the diagnosis of this condition. The cost of the test is 1460 AED.
The symptoms of Amino Acid Non-Ketotic Hyperglycinemia vary in severity and onset but are generally evident soon after birth. Early diagnosis and intervention are crucial in managing the condition and improving the quality of life for affected individuals. Here are the primary symptoms associated with this disorder:
- Neonatal Onset: This form is the most severe and symptoms appear within a few days of birth. Infants may exhibit extreme lethargy, feeding difficulties, hypotonia (reduced muscle tone), and seizures which are often resistant to treatment.
- Infantile Onset: Symptoms in this form become apparent after the neonatal period, usually within the first year of life. Children may experience developmental delays, hypotonia, ataxia (lack of muscle coordination), and occasionally seizures.
- Late-Onset: Though rare, some individuals may not show symptoms until late childhood or even adulthood. Symptoms can include unexplained seizures, behavioral problems, and varying degrees of intellectual disability.
It is important to note that the severity of symptoms can vary widely among individuals, even among those with the same form of the disorder. Additionally, there are cases where individuals may have elevated levels of glycine without showing any symptoms.
Due to the complex nature of Amino Acid Non-Ketotic Hyperglycinemia, a comprehensive diagnostic approach is essential. The Amino Acid Non-Ketotic Hyperglycinemia Panel Quantitative CSF and Plasma Test offered by DNA Labs UAE is a crucial tool in this diagnostic process. By accurately measuring the levels of glycine in the CSF and plasma, this test can help confirm a diagnosis, allowing for early intervention and management strategies to be implemented.
Managing Amino Acid Non-Ketotic Hyperglycinemia requires a multidisciplinary approach, including dietary management to control glycine levels, medications to manage symptoms such as seizures, and regular monitoring of glycine levels. Early diagnosis through the Quantitative CSF and Plasma Test is critical to managing the condition effectively and improving outcomes for those affected.
For families with a history of Amino Acid Non-Ketotic Hyperglycinemia or for individuals showing symptoms consistent with the disorder, the Quantitative CSF and Plasma Test provided by DNA Labs UAE is an invaluable resource. With a cost of 1460 AED, it offers a definitive step towards accurate diagnosis and effective management of this challenging condition.
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