Amino Acid Analysis for Non-Ketotic Hyperglycinemia Panel in CSF & Plasma

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.

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.

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

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

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.

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.

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.

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.

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.

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.

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.

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.