What is Mucolipidosis II IIIA?
Mucolipidosis II and mucolipidosis IIIA are pan-ethnic autosomal recessive diseases caused by pathogenic variants in the gene GNPTAB.
What organelle is affected by Mucolipidosis II?
Inclusion-cell (I-cell) disease, also referred to as mucolipidosis II (ML II), is part of the lysosomal storage disease family and results from a defective phosphotransferase (an enzyme of the Golgi apparatus).
What is ml2 rare disease?
I-cell disease (mucolipidosis II) is a rare inherited metabolic disorder characterized by coarse facial features, skeletal abnormalities and mental retardation. The symptoms of I-cell disease are similar to but more severe than those of Hurler syndrome.
What is Mucolipidosis III gamma?
Mucolipidosis III gamma is a slowly progressive disorder that affects many parts of the body. Signs and symptoms of this condition typically appear around age 3. Individuals with mucolipidosis III gamma grow slowly and have short stature.
What kind of disease is mucolipidosis II ( ML II )?
Mucolipidosis II (ML II) is a rare, inherited disorder that is progressive in nature and affects many of the body’s systems. Mucolipidosis II is also known as I-cell disease. The condition is classified as a lysosomal storage disorder (LSD).
How does Mucolipidosis II alpha / beta affect the body?
Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry.
When do people with mucolipidosis II stop growing?
Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry. Affected individuals grow slowly after birth and usually stop growing during the second year of life.
How are Mucopolysaccharidoses and mucolipidoses the same?
While both conditions produce similar symptoms and are caused by the lack of enzymes necessary to break down and transport carbohydrates and lipids, the mucopolysaccharidoses result in an excess of sugars, known as mucopolysaccharides, in the urine.
