Disorder of glycine metabolism, unspecified
ICD-10 E72.50 is a billable code used to indicate a diagnosis of disorder of glycine metabolism, unspecified.
Disorders of glycine metabolism encompass a range of metabolic conditions characterized by the abnormal metabolism of glycine, an amino acid that plays a crucial role in various physiological processes, including neurotransmission and the synthesis of proteins. Glycine metabolism disorders can arise from enzyme deficiencies that disrupt the normal catabolism or utilization of glycine, leading to an accumulation of this amino acid in the body. Symptoms may vary widely, including neurological manifestations such as seizures, developmental delays, and cognitive impairments. The unspecified nature of this code indicates that the specific type of glycine metabolism disorder has not been clearly defined or diagnosed, which can complicate treatment and management strategies. Genetic factors often play a significant role in these disorders, with many being inherited in an autosomal recessive manner. Diagnosis typically involves biochemical testing to measure glycine levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management may include dietary modifications, supplementation, and symptomatic treatment, but the lack of specificity in this code can lead to challenges in accurately capturing the patient's condition for treatment and reimbursement purposes.
Detailed family history, results of genetic testing, and clinical findings.
Patients with a family history of metabolic disorders presenting with neurological symptoms.
Ensure that genetic testing results are clearly documented to support the diagnosis.
Growth and developmental assessments, neurological evaluations, and metabolic screening results.
Infants or children presenting with developmental delays or seizures.
Documenting the timeline of symptom onset and any interventions provided.
When a patient is suspected of having a glycine metabolism disorder and genetic testing is performed.
Results of genetic tests and clinical findings must be documented.
Genetic specialists should ensure that family history is included in the documentation.
Common symptoms include developmental delays, seizures, hypotonia, and cognitive impairments. Symptoms can vary widely depending on the specific disorder and the age of onset.
