Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells. [1] When originally named, the mucolipidoses derived their name from the similarity in presentation to both mucopolysaccharidoses and sphingolipidoses. [2]

Mucolipidoses (MLs) are classified as a lysosomal storage diseases (LSDs) because of their involvement in increased storage materials in the lysosomes. Around 50 LSDs have been identified so far, and the incidence is approximately 1 in every 7000 births [1].

What 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).

Mucolipidosis type II (ML II), also known as I cell disease, is a rare and progressive metabolic disorder that involves our body's ability to break down certain fats (mucolipids). Symptoms typically present in infancy or early childhood and include weak muscle tone (hypotonia), developmental delay, limited mobility, clubfeet, thickened skin ...

Aug 11, 2015 · Mucolipidosis IV is a rare metabolic disorder characterized by intellectual disability; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea ...

Mucolipidosis type IV is an inherited disorder characterized by delayed development and vision impairment that worsens over time. The severe form of the disorder is called typical mucolipidosis type IV, and the mild form is called atypical mucolipidosis type IV.

Mucolipidosis is an autosomal recessive genetic disorder, meaning an individual must inherit two copies of the defective gene, one from each parent, to manifest symptoms. Each type of mucolipidosis is caused by different genetic mutations affecting enzyme production or function within lysosomes.

Mucolipidosis (ML) II and III are autosomal recessive disorders caused by deficiency of N-acetylglucosamine-1-phosphotransferase, which phosphorylates carbohydrate residues on N-linked glycoproteins. This prevents lysosomal enzymes from entering the organelle.

Mucolipidosis (ML) II, ML III α/beta, and ML III gamma (OMIM #252500, #252600, and #252605) are rare, autosomal recessive genetic diseases caused by deficiency of N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC 2.7.8.17).

What is Mucolipidosis I (ML I)? Mucolipidosis I (ML I) is a rare, inherited disorder. Mucolipidosis I is also known as sialidosis. The condition is classified as a lysosomal storage disorder (LSD). In these disorders, genetic variations disrupt the normal activity of lysosomes in human cells.