Other disorders of sulfur-bearing amino-acid metabolism
ICD-10 E72.19 is a billable code used to indicate a diagnosis of other disorders of sulfur-bearing amino-acid metabolism.
E72.19 encompasses a variety of metabolic disorders related to the metabolism of sulfur-bearing amino acids, primarily cysteine and methionine. These disorders can arise from genetic enzyme deficiencies that disrupt normal metabolic pathways, leading to an accumulation of toxic metabolites or a deficiency of essential compounds. Conditions such as cystathionine beta-synthase deficiency, which leads to homocystinuria, and other less common disorders fall under this category. Symptoms may vary widely, including developmental delays, neurological deficits, and cardiovascular complications. Diagnosis typically involves biochemical testing to measure amino acid levels in plasma and urine, alongside genetic testing to identify specific enzyme deficiencies. Management often requires dietary modifications, supplementation, and in some cases, pharmacological interventions to mitigate symptoms and prevent complications. Understanding these disorders is crucial for timely diagnosis and treatment, as they can significantly impact quality of life and long-term health outcomes.
Detailed family history and genetic testing results
Patients with a family history of metabolic disorders presenting with developmental delays or unusual symptoms.
Ensure genetic counseling notes are included to support diagnosis.
Growth charts, developmental assessments, and metabolic screening results
Infants or children presenting with failure to thrive or neurological symptoms.
Document any dietary interventions or referrals to specialists.
Used when a patient is suspected of having a disorder related to sulfur-bearing amino acids.
Genetic testing results and clinical notes supporting the need for testing.
Genetic specialists should ensure comprehensive family history is documented.
Sulfur-bearing amino acids include cysteine and methionine, which are essential for various metabolic processes in the body.
Diagnosis typically involves biochemical testing to measure amino acid levels and genetic testing to identify specific enzyme deficiencies.
