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 (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 …

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 …

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 …

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 …

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 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 (ML) II and III are autosomal recessive disorders caused by deficiency of N-acetylglucosamine-1-phosphotransferase, which phosphorylates carbohydrate residues on N …

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 …

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). …