Lysosome-associated membrane protein 2 [LAMP2] deficiency
ICD-10 E74.05 is a billable code used to indicate a diagnosis of lysosome-associated membrane protein 2 [lamp2] deficiency.
Lysosome-associated membrane protein 2 (LAMP2) deficiency is a rare genetic disorder that affects the lysosomal function in cells. It is caused by mutations in the LAMP2 gene, which is crucial for the proper functioning of lysosomes, the cellular organelles responsible for breaking down waste materials and cellular debris. This deficiency leads to a buildup of undigested materials within lysosomes, resulting in cellular dysfunction and a variety of clinical manifestations. Patients may present with symptoms such as muscle weakness, cardiomyopathy, and neurological deficits. The condition is often categorized into three clinical forms: classical LAMP2 deficiency, which presents in infancy with severe symptoms; a late-onset form, which may manifest in childhood or adulthood with milder symptoms; and an intermediate form. Diagnosis typically involves genetic testing to identify mutations in the LAMP2 gene, along with clinical evaluation and biochemical assays to assess lysosomal function. Management is supportive and symptomatic, focusing on improving quality of life and addressing specific symptoms.
Detailed genetic testing results and family history.
Patients presenting with unexplained muscle weakness or cardiomyopathy.
Ensure accurate documentation of genetic mutations and their implications.
Growth and developmental milestones, symptom progression.
Infants or children with developmental delays and muscle weakness.
Documenting the onset and progression of symptoms is crucial for accurate coding.
Used when genetic testing is performed to confirm LAMP2 deficiency.
Document the reason for testing and the results.
Genetic counseling may be necessary for family members.
LAMP2 deficiency is a rare genetic disorder that affects lysosomal function, leading to various clinical symptoms including muscle weakness and cardiomyopathy.
Diagnosis is confirmed through genetic testing to identify mutations in the LAMP2 gene, along with clinical evaluation.
Management is primarily supportive, focusing on alleviating symptoms and improving quality of life.
