E72.23
BillableCitrullinemia
HCC Category Mapping
V24HCC 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 genetic disorder where the body cannot properly process the amino acid citrulline, leading to its accumulation and elevated ammonia levels.
Coding Tips
- •Distinguish between Type I (classic) and Type II citrullinemia, as they have different genetic causes and treatment approaches
- •Document ammonia levels and any hyperammonemic episodes in the medical record
Clinical Significance
Citrullinemia encompasses two distinct genetic disorders: type I (classic, due to argininosuccinate synthetase deficiency) presenting with severe neonatal hyperammonemia, and type II (due to citrin deficiency) presenting with adult-onset neuropsychiatric symptoms and fatty liver. Type I is one of the most severe urea cycle disorders, with neonatal presentation often requiring emergency ammonia-lowering treatment. Type II has a distinctive predilection for individuals of East Asian descent.
Documentation Requirements
- ✓Document whether type I or type II citrullinemia, plasma citrulline levels (markedly elevated in type I), ammonia levels, genetic testing for ASS1 (type I) or SLC25A13 (type II) mutations, clinical presentation and severity, and management plan including dietary restrictions, nitrogen scavenger therapy, or liver transplant consideration.
Commonly Confused Codes
E72.22 (Arginosuccinic aciduria) which involves the next enzyme in the urea cycleE72.21 (Argininemia) for arginase deficiencyE72.20 (Disorder of urea cycle metabolism, unspecified) which lacks specificityK76.0 (Fatty liver, not elsewhere classified) when type II citrullinemia is not recognized as the cause.