Other disorders of glycine metabolism
ICD-10 E72.59 is a billable code used to indicate a diagnosis of other disorders of glycine metabolism.
E72.59 refers to a group of rare metabolic disorders characterized by abnormalities in glycine metabolism. Glycine is a non-essential amino acid that plays a crucial role in various physiological processes, including neurotransmission and the synthesis of proteins. Disorders in glycine metabolism can arise from enzyme deficiencies, leading to the accumulation of toxic metabolites or the inability to synthesize necessary compounds. Conditions such as glycine encephalopathy (non-ketotic hyperglycinemia) are notable examples, where excess glycine leads to neurological symptoms. Other disorders may involve defects in glycine cleavage systems or transport mechanisms, resulting in a spectrum of clinical manifestations ranging from mild to severe. Diagnosis typically involves biochemical testing to measure glycine levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management strategies may include dietary modifications, supplementation, and symptomatic treatment, depending on the severity and specific nature of the disorder.
Detailed family history and genetic testing results.
Evaluation of patients with suspected metabolic disorders based on family history or clinical symptoms.
Ensure that genetic counseling is documented, especially for hereditary conditions.
Growth and developmental assessments, along with metabolic screening results.
Management of infants presenting with neurological symptoms or developmental delays.
Document any dietary interventions or referrals to specialists.
When a patient is suspected of having a glycine metabolism disorder based on clinical symptoms.
Document the rationale for genetic testing and the specific disorder being investigated.
Genetic specialists should ensure comprehensive family history is included.
Common symptoms include neurological issues such as seizures, developmental delays, hypotonia, and lethargy. Symptoms can vary widely based on the specific disorder and its severity.
