E75.11
BillableMucolipidosis IV
HCC Category Mapping
RxHCCHCC 41 — Lysosomal Storage Disorders
0.000What This Code Means
A rare inherited metabolic disorder where fatty substances accumulate in cells throughout the body, particularly affecting the nervous system and causing progressive neurological symptoms.
Coding Tips
- •This is a specific diagnosis requiring genetic confirmation; verify molecular testing results are documented
- •Ensure the diagnosis distinguishes mucolipidosis IV from other gangliosidoses in the medical record
Clinical Significance
Mucolipidosis IV is a rare autosomal recessive lysosomal storage disorder caused by MCOLN1 gene mutations affecting the TRPML1 ion channel. It presents with corneal clouding, progressive psychomotor retardation, and achlorhydria (absent stomach acid). Unlike many lysosomal disorders, it does not cause skeletal abnormalities or organomegaly. Accurate diagnosis is important as the clinical course and management differ from other gangliosidoses.
Documentation Requirements
- ✓Confirmed diagnosis of mucolipidosis IV
- ✓Genetic testing showing MCOLN1 gene mutations
- ✓Ophthalmologic findings including corneal clouding
- ✓Neurological assessment documenting developmental status
- ✓Gastric acid production assessment or documentation of achlorhydria
- ✓Documentation distinguishing from other mucolipidosis types (I, II, III)
Commonly Confused Codes
E75.10 — Unspecified gangliosidosis: less specific; use E75.11 when ML IV is confirmedE75.19 — Other gangliosidosis: for gangliosidoses not classified as GM2 or mucolipidosis IVE77.0 — Defects in post-translational modification of lysosomal enzymes: mucolipidosis II and III are coded hereE77.1 — Defects in glycoprotein degradation: another lysosomal disorder categoryE75.00-E75.09 — GM2 gangliosidosis codes: different lysosomal storage disease