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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
Elite in Mucolipidosis Type 4
Utrecht, UT, NL 

Judith Klumperman practices in Utrecht, Netherlands. Klumperman and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Mucolipidosis Type 4, Sialidosis, Mucolipidosis 3, and Arthrogryposis Multiplex Congenita.

Elite in Mucolipidosis Type 4
Elite in Mucolipidosis Type 4
Berlin, BE, DE 

Renata Velho practices in Berlin, Germany. Velho and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. Her top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and Endometriosis.

 
 
 
 
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Elite in Mucolipidosis Type 4
Elite in Mucolipidosis Type 4
Hamburg, HH, DE 

Thomas Braulke practices in Hamburg, Germany. Braulke and is rated as an Elite expert by MediFind in the treatment of Mucolipidosis Type 4. His top areas of expertise are Mucolipidosis Type 4, Mucolipidosis 3, Sialidosis, and CLN3 Disease.

What are the latest Mucolipidosis Type 4 Clinical Trials?
Natural History of Glycosphingolipid Storage Disorders and Glycoprotein Disorders

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...

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The Natural History of Sialidosis Type I

Summary: Sialidosis type 1 is an autosomal recessive disorder caused by bialleic NEU1 gene mutations. Patients with sialidosis type I present variable neurological and eye dysfunction and the progression rate is variable. The goal of this protocol is to assess the neurological and ophthalmological status of these patients and characterize the clinical and laboratory abnormalities in order to determine the ...

Who are the sources who wrote this article ?

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

What are the Latest Advances for Mucolipidosis Type 4?
TPCs: From plant to human.
TPCs: From plant to human.
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