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What are mucolipidoses (ML)?

Mucolipidoses are a group of rare metabolic diseases. In general, metabolic disorders disrupt the ability of the body to break down compounds in food, such as carbohydrates, proteins, or fats. The body uses certain chemicals, or enzymes, to break down these substances so that it can use them to function and grow. In the case of mucolipidoses, the enzymes responsible for breaking down carbohydrates and lipids are either damaged or missing, and the substances accumulate in the body, causing damage. Depending on the severity of the disorder, blindness; mental retardation; the inability to walk or talk; skeletal problems; anemia; and shortened life expectancy may all result.

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 the cells. In ML, abnormal amounts of carbohydrates or fatty materials (lipids) accumulate in the cells. Since our cells are not able to handle such large amounts of these substances, damage occurs to the cells, causing symptoms that range from mild learning disabilities to severe mental retardation and skeletal deformities. 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.
This answer is based on source information from National Institute of Neurological Disorders and Stroke.

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Important: This content reflects information from various individuals and organizations and may offer alternative or opposing points of view. It should not be used for medical advice, diagnosis or treatment. As always, you should consult with your healthcare provider about your specific health needs.