Disorders of lysine and hydroxylysine metabolism
ICD-10 E72.3 is a billable code used to indicate a diagnosis of disorders of lysine and hydroxylysine metabolism.
Disorders of lysine and hydroxylysine metabolism are rare metabolic conditions characterized by the body's inability to properly metabolize the amino acids lysine and hydroxylysine. These disorders can lead to a variety of clinical manifestations, including growth retardation, skeletal abnormalities, and neurological deficits. The underlying cause is often due to enzyme deficiencies that disrupt the normal metabolic pathways of these amino acids. Lysine is essential for protein synthesis and plays a critical role in various physiological functions, including collagen formation and hormone production. Hydroxylysine, a derivative of lysine, is primarily involved in the structural integrity of collagen. Deficiencies in the enzymes responsible for the metabolism of these amino acids can result in the accumulation of toxic metabolites, leading to cellular dysfunction and systemic effects. Diagnosis typically involves biochemical testing to measure amino acid levels in blood and urine, alongside genetic testing to identify specific enzyme deficiencies. Management may include dietary modifications, supplementation, and supportive therapies to address symptoms and improve quality of life.
Detailed family history and genetic testing results.
Patients with unexplained developmental delays or metabolic crises.
Ensure genetic counseling is documented for affected families.
Growth charts and developmental assessments.
Infants with failure to thrive or unusual skeletal findings.
Document any dietary interventions or referrals to nutritionists.
Used to confirm diagnosis of lysine metabolism disorder through blood or urine tests.
Document the reason for testing and any relevant clinical findings.
Geneticists and metabolic specialists should ensure comprehensive documentation of test results.
Common symptoms include growth retardation, skeletal abnormalities, neurological deficits, and metabolic crises. Symptoms can vary widely based on the severity of the enzyme deficiency.
