Non-ketotic hyperglycinemia
ICD-10 E72.51 is a billable code used to indicate a diagnosis of non-ketotic hyperglycinemia.
Non-ketotic hyperglycinemia (NKH) is a rare metabolic disorder characterized by an accumulation of glycine in the body due to a deficiency in the glycine cleavage system, which is responsible for breaking down glycine. This condition is primarily caused by genetic mutations affecting the enzymes involved in glycine metabolism, particularly the glycine decarboxylase (GLDC) enzyme. Patients with NKH often present with neurological symptoms such as seizures, developmental delays, and hypotonia, which can manifest in infancy or early childhood. The excess glycine can lead to a range of symptoms, including lethargy, irritability, and in severe cases, coma. Diagnosis is typically confirmed through elevated levels of glycine in the blood and cerebrospinal fluid, alongside genetic testing to identify specific mutations. Management of NKH focuses on symptomatic treatment and may include dietary modifications, anticonvulsants for seizure control, and supportive therapies to enhance developmental outcomes. Early diagnosis and intervention are crucial for improving the quality of life for affected individuals.
Detailed developmental history and neurological assessments.
Infants presenting with seizures or developmental delays.
Documentation should emphasize the timeline of symptom onset and any interventions.
Genetic test results and family history of metabolic disorders.
Patients undergoing evaluation for inherited metabolic conditions.
Clear documentation of genetic counseling and testing processes is essential.
Used when confirming a diagnosis of NKH.
Results of genetic tests must be documented.
Genetic counseling may be necessary for families.
Common symptoms include seizures, developmental delays, hypotonia, irritability, and lethargy. Symptoms can vary widely among individuals.
Diagnosis is typically made through elevated glycine levels in blood and cerebrospinal fluid, along with genetic testing to identify mutations in the GLDC gene.
Treatment is symptomatic and may include anticonvulsants for seizures, dietary modifications, and supportive therapies to enhance development.
