Nonketotic Hyperglycinemia (NKH) is a rare genetic disorder that affects the breakdown of the amino acid glycine in the body. It is caused by a deficiency of the enzyme glycine cleavage system, which leads to an accumulation of glycine in the brain and other organs. NKH is typically diagnosed in the first few days of life and can have severe neurological symptoms.
Symptoms: Infants with NKH may experience poor feeding, lethargy, seizures, weak muscle tone, and breathing difficulties. These symptoms can progress to coma and even death if left untreated.
Treatment: Unfortunately, there is no cure for NKH. Treatment mainly focuses on managing symptoms and preventing complications. This may involve a low-protein diet, medications to reduce glycine levels, and supportive care to address the individual's specific needs.
Prognosis: The prognosis for individuals with NKH varies depending on the severity of the condition. Some may experience developmental delays and intellectual disabilities, while others may have a more favorable outcome with early intervention and appropriate management.
If you suspect your child may have NKH, it is crucial to consult with a healthcare professional for proper diagnosis and guidance on managing the condition.