Mucolipidosis IV
Mucolipidosis IV is a rare inherited disorder characterized by delayed development and vision impairment. It has two forms: the severe form (typical) and the mild form (atypical).
Impact of Gene Variants
This disorder is caused by mutations in the MCOLN1 gene. The gene mutations disrupt cellular functions, leading to a buildup of certain substances inside lysosomes.
Ways to Recognize Problems
Symptoms usually appear within the first year of life. These include delayed development of mental and motor skills, intellectual disability, limited speech, and vision impairment.
Ways to Improve
While there’s no specific treatment, symptoms can be managed. Anemia can be treated with iron supplements. Physical and speech therapies can improve mobility and communication.
Did you know
Mucolipidosis IV is often misdiagnosed as cerebral palsy. In the Ashkenazi Jewish population, the carrier frequency of severe mutations is 1:90 to 1:100.
