E71.120
BillableMethylmalonic acidemia
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 inherited metabolic disorder where the body cannot properly convert methylmalonic acid, leading to its accumulation and potential neurological and blood-related complications.
Coding Tips
- •Distinguish between methylmalonic acidemia (E71.120) and other forms of methylmalonic aciduria
- •Document whether this is vitamin B12-responsive or non-responsive if documented in the medical record
Clinical Significance
Methylmalonic acidemia is a serious inherited metabolic disorder caused by deficiency of methylmalonyl-CoA mutase, leading to accumulation of methylmalonic acid with potential for life-threatening metabolic crises. Patients face risks of renal failure, pancreatitis, and neurological damage including movement disorders and developmental delays. Some forms respond to vitamin B12 supplementation, making accurate diagnosis critical for treatment planning.
Documentation Requirements
- ✓Document whether the condition is vitamin B12-responsive or non-responsive, plasma methylmalonic acid and homocysteine levels, genetic mutation if known, renal function status, and history of metabolic decompensation episodes.
- ✓Record dietary protein restriction details and supplementation regimen.
Commonly Confused Codes
E71.121 (Propionic acidemia) which involves a different but related metabolic pathwayE71.128 (Other disorders of propionate metabolism) for unspecified propionate pathway defectsE72.12 (Methylenetetrahydrofolate reductase deficiency) which also affects methylation pathways but is a different disorder.