E72.3
Disorders of lysine and hydroxylysine metabolism
Clinical Classification Guidelines
Inclusion Terms
- Glutaric aciduria NOS
- Glutaric aciduria (type I)
- Hydroxylysinemia
- Hyperlysinemia
Excludes Type 1
- glutaric aciduria type II (E71.313)
- Refsum's disease (G60.1)
- Zellweger syndrome (E71.510)
Medical Intelligence & Overview
Disorders related to the metabolism of lysine and hydroxylysine are rare inherited conditions that affect how the body processes these essential amino acids. These metabolic disorders can lead to a buildup of substances like glutaric acid, which may cause a variety of health issues. Proper diagnosis and management are important to improve quality of life and prevent complications.
Causes & Symptoms
Clinical Causes: Genetic mutations inherited from parents that affect enzymes involved in lysine and hydroxylysine metabolism Deficiencies of specific enzymes necessary for breaking down lysine and hydroxylysine Mutations leading to enzyme activity reduction or absence, resulting in accumulation of metabolic byproducts
Key Symptoms: Developmental delays or intellectual disabilities Muscle weakness or hypotonia (reduced muscle tone) Seizures or neurological disturbances Growth retardation and failure to thrive Possible neurological symptoms like movement disorders or abnormal gait In some cases, symptoms may appear during infancy or early childhood
Diagnostic & Treatment
Diagnosis Path: Diagnosis typically involves a combination of clinical evaluation, biochemical tests, and genetic analysis. Blood and urine tests can detect abnormal levels of amino acids or metabolites such as glutaric acid. Enzyme activity assays may be performed to confirm specific enzyme deficiencies, and genetic testing can identify mutations in associated genes. Imaging studies like MRI might be used to assess neurological impact.
Treatment Protocols: Dietary restrictions to limit intake of lysine-rich foods, aiming to reduce the accumulation of harmful metabolites Supplements or medications that help manage or prevent metabolic crises Regular monitoring through biochemical tests to track metabolite levels Supportive therapies such as physical, occupational, or speech therapy to address developmental delays Prompt medical attention during illness or metabolic crises to prevent severe complications
Clinical Advice & FAQs
Billing Guidance
Is E72.3 a billable ICD-10 code?
Yes, E72.3 is a specific, billable code that can be used to indicate a diagnosis for reimbursement purposes.
Documentation
How do I report E72.3?
Clinical documentation must specify the nature of Disorders of lysine and hydroxylysine metabolism and any associated comorbidities for accurate reporting.
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