E79.1
BillableLesch-Nyhan syndrome
HCC Category Mapping
V28HCC 50 — Glycogen/Amino-Acid/Other Metabolic Disorders
0.289V24HCC 23 — Other Significant Endocrine and Metabolic Disorders
0.230ESRDHCC 23 — Other Significant Endocrine and Metabolic Disorders
0.000RxHCCHCC 43 — Other Significant Endocrine and Metabolic Disorders
0.000What This Code Means
A rare inherited metabolic disorder affecting purine metabolism, causing intellectual disability, movement problems, and kidney issues.
Coding Tips
- •This is a genetic condition requiring documentation of diagnosis confirmation
- •Often associated with self-injurious behavior and neurological complications that should be coded separately
Clinical Significance
Lesch-Nyhan syndrome is a rare X-linked recessive disorder caused by complete deficiency of hypoxanthine-guanine phosphoribosyltransferase (HGPRT/HPRT), resulting in overproduction of uric acid. It is characterized by severe neurological impairment including compulsive self-injurious behavior (lip and finger biting), dystonia, intellectual disability, and gout, representing one of the most clinically distinctive metabolic disorders.
Documentation Requirements
- ✓Provider diagnosis of Lesch-Nyhan syndrome
- ✓Confirmatory testing: HPRT enzyme assay showing absent or near-absent activity, or HPRT1 gene mutation
- ✓Neurological manifestations: self-injurious behavior, dystonia, choreoathetosis, intellectual disability
- ✓Uric acid levels and history of gout, nephrolithiasis, or renal complications
- ✓Behavioral management plan for self-injury (restraints, dental guards, behavioral interventions)
- ✓Medications: allopurinol for hyperuricemia, other supportive therapies
Commonly Confused Codes
E79.0 — Hyperuricemia without gout: partial HPRT deficiency causes hyperuricemia without the neurological features of Lesch-NyhanM10.9 — Gout, unspecified: gout is a feature of Lesch-Nyhan but does not capture the full syndromeE79.89 — Other disorders of purine and pyrimidine metabolism: for purine disorders that are NOT Lesch-NyhanF63.3 — Trichotillomania: self-injurious behavior may be confused with other behavioral disorders
Code Hierarchy
└E79Disorders of purine and pyrimidine metabolism└E79.1Lesch-Nyhan syndrome
└E79.1Lesch-Nyhan syndrome