Mucolipidosis Type 4
Symptoms, Doctors, Treatments, Advances & More

Mucolipidosis Type 4 Overview

Save information for later
Sign Up

Learn About Mucolipidosis Type 4

What is the definition of Mucolipidosis Type 4?
Mucolipidosis type 4 is a metabolic condition that affects the body's ability to process certain carbohydrates and fats. As a result, these materials accumulate in cells leading to the various signs and symptoms of the condition. Most people with Mucolipidosis type 4 develop severe psychomotor (mental and motor skills) delay and visual impairment. Other common features of the condition include limited or absent speech; intellectual disability; hypotonia that gradually progresses to spasticity; problems controlling hand movements; impaired production of stomach acids; and iron deficiency. Approximately 5% of affected people have a mild form of the condition (known as atypical Mucolipidosis type 4) which is associated with milder psychomotor delay and less severe eye abnormalities. Mucolipidosis type 4 is caused by changes in the MCOLN1 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Mucolipidosis Type 4?
  • Mucolipidosis type 4
  • Berman syndrome
  • Ganglioside neuraminidase deficiency
  • Ganglioside sialidase deficiency
  • ML 4
  • Mucolipidosis type IV
Who are the top Mucolipidosis Type 4 Local Doctors?
Elite in Mucolipidosis Type 4
Dr. Sara S. Cathey
Medical Genetics
Elite in Mucolipidosis Type 4
Dr. Sara S. Cathey
Medical Genetics

Greenwood Genetic Center– Charleston

3520 West Montague Avenue, 
Charleston, SC 
843-746-1001
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Sara Cathey is a Medical Genetics provider practicing medicine in Charleston, South Carolina. Dr. Cathey is rated as an Elite provider by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Aspartylglucosaminuria, Mucolipidosis Type 4, Fucosidosis, and Sialidosis. Dr. Cathey is currently accepting new patients.

Elite in Mucolipidosis Type 4
Renata V. Velho
Elite in Mucolipidosis Type 4
Renata V. Velho
Berlin, BE, DE 

Renata Velho practices practicing medicine in Berlin, Germany. Ms. Velho is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 4 other conditions, according to our data. Her clinical expertise encompasses Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Endometriosis.

 
 
 
 
Learn about our expert tiers
Learn More
Elite in Mucolipidosis Type 4
Fernanda Ludwig-Sperb
Elite in Mucolipidosis Type 4
Fernanda Ludwig-Sperb
Porto Alegre, RS, BR 

Fernanda Ludwig-Sperb practices practicing medicine in Porto Alegre, Brazil. Ms. Ludwig-Sperb is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. She is also highly rated in 12 other conditions, according to our data. Her clinical expertise encompasses Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Biotinidase Deficiency.

View All Doctors
What are the latest Mucolipidosis Type 4 Clinical Trials?
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders
Enrollment Status: Recruiting
Publish Date: April 14, 2026

Objectives: To study the natural history and progression of neurodegeneration in individuals with glycosphingolipid storage disorders (GSL), GM1 and GM2 gangliosidosis, and glycoprotein (GP) disorders including sialidosis and galactosialidosis using clinical evaluation of patients and patient/parent surveys. To develop sensitive tools for monitoring disease progression. To identify biological markers in blood...

Match to trials
Find the right clinical trials for you in under a minute
Get started
Coordination of Rare Diseases at Sanford
Coordination of Rare Diseases at Sanford
Enrollment Status: Recruiting
Publish Date: May 29, 2025

Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...

View All Clinical Trials
Who are the sources who wrote this article ?

Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center