Non-Ketotic Hyperglycinemia - Price, Normal Range | Sprint Diagnostics Hyderabad

Patient Preparing : No fasting is required, but its advisable to follow any specific instructions given by the doctor regarding the preparation for the blood and CSF tests.

₹ 7500


Non-Ketotic Hyperglycinemia (NKH), also known as Glycine Encephalopathy, is a rare genetic disorder characterized by an excess of glycine in the body, particularly in the brain and spinal fluid. This condition is caused by a deficiency of an enzyme required to break down glycine, an amino acid that acts as a neurotransmitter in the brain. Elevated levels of glycine can disrupt the normal activity of other neurotransmitters, leading to a range of neurological symptoms and complications. The Amino Acid Analysis for Non-Ketotic Hyperglycinemia Panel in CSF and Plasma is a diagnostic test that measures the levels of glycine and other amino acids in the cerebrospinal fluid and blood plasma.

Test Name Amino Acid Analysis for Non-Ketotic Hyperglycinemia Panel in CSF & Plasma
Sample Type Cerebrospinal Fluid (CSF) & Blood Plasma
Preparations Required No fasting is required, but its advisable to follow any specific instructions given by the doctor regarding the preparation for the blood and CSF tests.
Report Time 4 days
Price in Hyderabad ₹ 7500

What is Non-Ketotic Hyperglycinemia (NKH)?

NKH is a metabolic disorder where the body cannot effectively break down the amino acid glycine, leading to an excess of glycine in the brain and spinal fluid, which can cause severe neurological issues.

What are the symptoms of Non-Ketotic Hyperglycinemia?

Symptoms usually manifest in early infancy and may include lethargy, seizures, muscle stiffness, developmental delay, breathing problems, and feeding difficulties.

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How is the Amino Acid Analysis for NKH conducted?

A blood sample is taken to analyze the plasma, and a lumbar puncture (spinal tap) is performed to obtain cerebrospinal fluid (CSF). The levels of glycine and other amino acids are then measured in the laboratory.

Why is it important to detect NKH early?

Early detection of NKH is critical for initiating treatment to manage symptoms and prevent potentially severe complications such as seizures, intellectual disability, and breathing problems.

What is the treatment for Non-Ketotic Hyperglycinemia?

Treatment for NKH mainly focuses on managing symptoms. This may include medications to control seizures, a specialized diet to reduce glycine levels, and physical therapy.

Is NKH curable?

There is currently no cure for NKH. Treatment is focused on managing symptoms and improving the quality of life for those affected.

How common is Non-Ketotic Hyperglycinemia?

NKH is a rare disorder. The incidence is estimated to be between 1 in 55,000 to 1 in 65,000 live births.

Can NKH be prevented?

NKH is an inherited condition, so it cannot be prevented. However, genetic counseling can help families understand the risks and make informed decisions about family planning.

Can adults be affected by NKH?

NKH primarily affects infants, but in rare cases, it may present in adulthood with less severe symptoms such as difficulty with balance and coordination, or mild intellectual disability.

What is the role of glycine in the brain?

Glycine is an amino acid that acts as a neurotransmitter in the brain. It helps regulate various brain functions such as memory and mood. In NKH, the excessive levels of glycine disrupt the balance of neurotransmitters, leading to neurological symptoms.

Is a special diet helpful for people with NKH?

Yes, a diet low in protein can help reduce glycine levels in the body. A dietitian specializing in metabolic disorders can provide guidance on the appropriate diet.

Is regular monitoring necessary for individuals with NKH?

Yes, regular monitoring is necessary to assess the effectiveness of treatment and manage symptoms. This may include regular blood test, neurological evaluations, and dietary assessments.

Can pregnancy affect NKH?

If a mother is a carrier of the genetic mutation for NKH, there is a risk of passing the condition to the child. It’s also possible for the condition to worsen during pregnancy for a woman who has NKH. Pregnant women with a family history of NKH should seek genetic counseling.

What should be done if someone is diagnosed with NKH?

If someone is diagnosed with NKH, it is important to seek care from a medical team experienced in managing metabolic disorders. This should include a metabolic disease specialist, neurologist, dietitian, and genetic counselor.

Are there support groups for families dealing with NKH?

Yes, there are several organizations and support groups dedicated to assisting families dealing with NKH. These groups provide emotional support, information, and resources to help manage the condition. Non-Ketotic Hyperglycinemia is a serious genetic disorder that requires early diagnosis and proper management. The Amino Acid Analysis for NKH in CSF and Plasma is a vital diagnostic tool in assessing glycine levels in the body. It is important for families affected by NKH to have a strong support system and access to healthcare professionals experienced in managing metabolic disorders.

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