Common questions

What causes Mucolipidosis type 4?


What causes Mucolipidosis type 4?

Mucolipidosis IV is inherited as an autosomal recessive genetic trait and caused by mutations in the MCOLN1 gene.

What is Mucolipidosis?

Definition. The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.

How common is Mucolipidosis?

Mucolipidosis II alpha/beta is a rare disorder, although its exact prevalence is unknown. It is estimated to occur in about 1 in 100,000 to 400,000 individuals worldwide.

What are the symptoms of mucopolysaccharidosis?


  • Enlarged head, lips, cheeks, tongue, and nose.
  • Enlarged vocal cords, resulting in a deep voice.
  • Frequent upper respiratory infections.
  • Sleep apnea.
  • Hydrocephalus.
  • Hepatosplenomegaly (enlarged liver and spleen)
  • Umbilical hernia.
  • Inguinal hernia.

How common is Mucolipidosis type 4?

Mucolipidosis type IV is estimated to occur in 1 in 40,000 people. About 70 percent of affected individuals have Ashkenazi Jewish ancestry.

What are mucopolysaccharides examples?


  • Chitosan.
  • Heparin.
  • Collagen.
  • Protein.
  • Glucosamine.
  • Polysaccharide.
  • Chitin.
  • Chondroitin Sulfate.

Is Mucolipidosis recessive or dominant?

Mucolipidosis II, or I-cell disease, is an autosomal recessive disorder due to deficiency of N-acetylglucosamine-1-phosphotransferase, which results in a deficiency of lysosomal acid hydrolases.

How do you know if you have Gaucher disease?

Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia ), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.

What are the symptoms of mucolipidoses in children?

Symptoms of ML can be congenital (present at birth) or begin in early childhood or adolescence. Early symptoms can include vision problems and developmental delays. Over time, many children with ML develop poor mental capacities, have difficulty reaching normal developmental milestones, and, in many cases, eventually die of the disease.

What are the symptoms of mucolipidosis III ( ML III )?

Mucolipidosis III (ML III) is a rare and progressive metabolic disorder that involves our body’s ability to break down certain fats (mucolipids). Symptoms typically present around age 3 and include developmental delay, joint pain, thickened skin, heart valve abnormalities, and intellectual disabilities or learning problems.

What are the physical symptoms of mucopolysaccharidoses?

Physical symptoms include a slowing in growth before the end of the first year, short stature, multiple skeletal abnormalities, hernias, distinct facial features, and enlarged organs. Feeding may be difficult for some children.

Which is the most severe form of mucolipidosis?

Mucolipidosis IV is inherited as an autosomal recessive genetic trait and caused by mutations in the MCOLN1 gene. The severe form of the disease is called typical mucolipidosis IV, and the mild form is called atypical mucolipidosis IV. Approximately 95 percent of individuals diagnosed with this condition have the severe form.