Symptoms of HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
3-Hydroxyacyl-CoA dehydrogenase (HADH) deficiency is a rare genetic disorder that impacts the body’s ability to metabolize certain fats into energy, especially during periods of fasting. This condition, also known as hyperinsulinism-hyperammonemia syndrome, can lead to a variety of symptoms, which may vary significantly among individuals. Recognizing these symptoms early is crucial for management and treatment.
One of the hallmark symptoms of HADH deficiency is hypoglycemia, or low blood sugar levels, which can manifest as fatigue, irritability, and jitteriness. In severe cases, it can lead to seizures and unconsciousness, making it critical to monitor and manage. Individuals with this condition may also experience an elevated level of ammonia in the blood (hyperammonemia), leading to confusion, lethargy, and in severe cases, coma.
Muscle tone issues, including both hypotonia (reduced muscle strength) and hypertonia (increased muscle tone), are also associated with HADH deficiency. These symptoms can impact physical development and mobility, requiring specialized care and interventions.
- Fatigue
- Irritability and jitteriness
- Seizures
- Low blood sugar levels (hypoglycemia)
- Elevated blood ammonia levels (hyperammonemia)
- Confusion and lethargy
- Muscle tone issues (hypotonia and hypertonia)
It’s important to note that not all individuals with HADH deficiency will experience all these symptoms, and the severity can vary widely. Early diagnosis and treatment are key to managing the condition and preventing potential complications.
Genetic Testing for HADH Gene 3-Hydroxyacyl-CoA Dehydrogenase Deficiency
Genetic testing plays a pivotal role in the diagnosis of HADH gene 3-Hydroxyacyl-CoA Dehydrogenase deficiency. DNA Labs UAE offers a comprehensive genetic test that can accurately diagnose this condition, facilitating early intervention and management strategies.
The test involves a simple blood draw or saliva sample from the patient, which is then analyzed for mutations in the HADH gene. This gene plays a critical role in the metabolism of fats, and mutations can lead to the symptoms associated with HADH deficiency.
The cost of the genetic test at DNA Labs UAE is 4400 AED. This investment covers the collection of the sample, the genetic analysis, and a detailed report that explains the results. The report will also offer guidance on potential management and treatment strategies tailored to the individual’s specific genetic makeup.
For more information on the HADH gene 3-Hydroxyacyl-CoA Dehydrogenase deficiency genetic test and to schedule your test, please visit DNA Labs UAE.
Early diagnosis through genetic testing can significantly improve the quality of life for individuals with HADH deficiency by enabling tailored management strategies. If you or a loved one are experiencing symptoms related to HADH deficiency, consider reaching out to DNA Labs UAE to discuss whether this genetic test is right for you.
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