Mucolipidosis type IV

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Mucolipidosis type IV
Autorecessive.svg
Synonyms ML IV, Ganglioside sialidase deficiency
Pronounce N/A
Specialty N/A
Symptoms Developmental delay, corneal clouding, retinal degeneration, psychomotor retardation
Complications N/A
Onset Infancy
Duration Lifelong
Types N/A
Causes Mutations in the MCOLN1 gene
Risks Ashkenazi Jewish descent
Diagnosis Genetic testing, clinical evaluation
Differential diagnosis Mucolipidosis type II, Mucolipidosis type III, Sialidosis
Prevention N/A
Treatment Supportive care, physical therapy, occupational therapy
Medication N/A
Prognosis Variable, often severe
Frequency Rare, more common in Ashkenazi Jewish population
Deaths N/A


A rare genetic disorder affecting lysosomal storage


Mucolipidosis type IV (ML IV) is a rare lysosomal storage disorder characterized by the accumulation of lipids and mucopolysaccharides in the body's cells. It is an autosomal recessive disorder, meaning that an individual must inherit two copies of the defective gene, one from each parent, to be affected by the disease.

Genetics[edit | edit source]

ML IV is caused by mutations in the MCOLN1 gene, which encodes the protein mucolipin-1. This protein is involved in the regulation of lysosomal function and membrane trafficking. Mutations in the MCOLN1 gene lead to the dysfunction of lysosomes, resulting in the accumulation of undigested materials within cells.

Clinical Features[edit | edit source]

Individuals with ML IV typically present with developmental delay, intellectual disability, and motor skill impairment. Other common symptoms include:

Diagnosis[edit | edit source]

The diagnosis of ML IV is based on clinical evaluation, laboratory testing, and genetic testing. Laboratory tests may reveal elevated levels of certain lipids and mucopolysaccharides in the blood or urine. Genetic testing can confirm the presence of mutations in the MCOLN1 gene.

Management[edit | edit source]

There is currently no cure for ML IV, and treatment is primarily supportive. Management strategies may include:

  • Physical therapy to improve motor skills
  • Occupational therapy to assist with daily activities
  • Speech therapy to address communication difficulties
  • Regular ophthalmologic evaluations to monitor vision

Prognosis[edit | edit source]

The prognosis for individuals with ML IV varies. While some individuals may have a relatively stable course, others may experience progressive neurological decline. Life expectancy can be reduced, but supportive care can improve quality of life.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD