Disorders of sulfur-bearing amino-acid metabolism
ICD-10 E72.1 is a billable code used to indicate a diagnosis of disorders of sulfur-bearing amino-acid metabolism.
Disorders of sulfur-bearing amino-acid metabolism primarily involve the metabolism of amino acids such as cysteine, methionine, and homocysteine. 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. Common conditions associated with this code include cystathionine beta-synthase deficiency, which can lead to homocystinuria, and disorders related to methionine metabolism. Clinically, patients may present with a range of symptoms including developmental delays, neurological deficits, vascular complications, and skeletal abnormalities. Diagnosis typically involves biochemical testing to measure amino acid levels in plasma and urine, alongside genetic testing to identify specific enzyme deficiencies. Management may include dietary modifications, supplementation with specific amino acids, and in some cases, pharmacological interventions. Early diagnosis and intervention are crucial to prevent long-term complications associated with these metabolic disorders.
Detailed family history and genetic testing results must be documented.
Patients presenting with unexplained developmental delays or metabolic crises.
Genetic counseling may be necessary for families, and documentation should reflect the need for ongoing monitoring.
Growth and developmental assessments, along with dietary history.
Infants or children with signs of metabolic disorders, such as failure to thrive.
Pediatricians should document any referrals to specialists for comprehensive care.
Used to confirm the diagnosis of sulfur-bearing amino acid disorders.
Results of the amino acid analysis must be documented in the patient's medical record.
Geneticists and metabolic specialists should ensure that the analysis is interpreted in the context of clinical findings.
Common symptoms include developmental delays, neurological deficits, vascular complications, and skeletal abnormalities. Symptoms can vary widely depending on the specific disorder and the age of onset.
