Disorders of glycine metabolism
ICD-10 E72.5 is a billable code used to indicate a diagnosis of disorders of glycine metabolism.
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. These disorders can arise from enzyme deficiencies that disrupt the normal catabolism of glycine, leading to its accumulation in the body. Clinical manifestations may include neurological symptoms such as seizures, developmental delays, and cognitive impairments, as well as metabolic disturbances. Genetic mutations affecting enzymes involved in glycine metabolism, such as glycine decarboxylase or serine hydroxymethyltransferase, are often implicated in these conditions. Diagnosis typically involves biochemical testing to measure glycine levels in blood and urine, alongside genetic testing to identify specific mutations. Management strategies may include dietary modifications, supplementation, and symptomatic treatment to address neurological and metabolic complications. Early diagnosis and intervention are critical to improving outcomes for affected individuals.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained neurological symptoms or developmental delays.
Genetic counseling may be necessary for families, and documentation should reflect the need for interdisciplinary care.
Growth and developmental assessments, along with neurological evaluations.
Infants or children with developmental delays or seizures.
Close monitoring of growth parameters and developmental milestones is essential.
Used when a patient is suspected of having a glycine metabolism disorder.
Documentation of clinical symptoms and rationale for genetic testing.
Genetic counseling may be necessary for families.
Common symptoms include developmental delays, seizures, cognitive impairments, and metabolic disturbances. The severity and type of symptoms can vary widely among individuals.
