Mucolipidosis type IV is an inherited lysosomal storage disorder marked by delayed development and vision that worsens over time. About 95 percent of affected people have the severe typical form, with moderate to severe psychomotor delay from the first year of life, intellectual disability, limited or absent speech, difficulty chewing and swallowing, and weak muscle tone that gradually turns into spasticity. Clouding of the cornea and breakdown of the retina lead to severe vision loss or blindness by the early teens. Most people also lack stomach acid, which raises blood gastrin and can contribute to iron shortage and anemia. A mild atypical form affects about 5 percent. It is caused by mutations in the MCOLN1 gene, estimated at 1 in 40,000 people, and inherited as an autosomal recessive trait.
Facts
Classification
ICD-10 ChapterIV: Endocrine, Nutritional and Metabolic Diseases 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Mucolipidosis type IV
Filter Results1 entry
Connections
Treated By
Source National Organization for Rare Disorders: Mucolipidosis IV
Sources
1. Mucolipidosis type IV (MedlinePlus Genetics)
Description, typical form
Affected individuals have intellectual disability, limited or absent speech, difficulty chewing and swallowing, weak muscle tone (hypotonia) that gradually turns into abnormal muscle stiffness (spasticity), and problems controlling hand movements.
Description, vision
Individuals with this condition develop clouding of the clear covering of the eye (cornea) and progressive breakdown of the light-sensitive layer at the back of the eye (retina).
Causes
Mutations in the MCOLN1 gene cause mucolipidosis type IV.
Inheritance
This condition is inherited in an autosomal recessive pattern , which means both copies of the gene in each cell have mutations.
View the Source2. World Health Organization: ICD-10 Version:2019 - E70-E90 Metabolic disorders
World Health OrganizationICD-10 2019 category E75.1, Chapter IVQuote, ICD-10 2019 category E75.1, Chapter IV
E75.1 Other gangliosidosis Incl.: Gangliosidosis: NOS GM 1 GM 3 Mucolipidosis IV
3. National Organization for Rare Disorders: Mucolipidosis IV
National Organization for Rare DisordersOverview, first identification
The disorder was first identified in 1974
Treated By: Physical Therapy, Treatment
Intense physical, occupational and speech therapy are also of benefit.
View the Source Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.