Disorders of sulfur-bearing amino-acid metabolism, unspecified
ICD-10 E72.10 is a billable code used to indicate a diagnosis of disorders of sulfur-bearing amino-acid metabolism, unspecified.
Disorders of sulfur-bearing amino-acid metabolism encompass a range of metabolic conditions that affect the body's ability to process sulfur-containing amino acids, such as cysteine and methionine. These disorders can lead to a variety of clinical manifestations, including neurological deficits, growth retardation, and metabolic crises. The specific enzyme deficiencies involved in these disorders can vary, leading to different clinical presentations. For instance, cystathionine beta-synthase deficiency can result in homocystinuria, characterized by elevated levels of homocysteine in the urine and blood, which can cause vascular complications and developmental delays. Diagnosis typically involves biochemical testing to measure amino acid levels and genetic testing to identify specific enzyme deficiencies. Management may include dietary modifications, supplementation with specific amino acids, and monitoring for associated complications. Due to the broad spectrum of potential underlying causes and clinical presentations, the unspecified nature of this code indicates that further specificity is needed for accurate diagnosis and treatment.
Detailed family history and genetic testing results.
Patients presenting with developmental delays or unexplained metabolic symptoms.
Genetic counseling may be necessary for families.
Growth charts and developmental assessments.
Infants or children with failure to thrive or neurological symptoms.
Monitoring for growth and developmental milestones is crucial.
Used when evaluating patients for suspected metabolic disorders.
Document the rationale for testing and any relevant clinical findings.
Geneticists may require additional genetic testing codes.
Common symptoms can include developmental delays, neurological deficits, vascular complications, and metabolic crises, depending on the specific disorder.
