Metabolic Storage Diseases

Also known as: lysosomal storage diseases.

What are metabolic storage diseases?

Metabolic storage diseases are a fairly large group of rare genetic inherited disorders in which specific enzymes of a child's cell are insufficient. Enzymes help break down certain materials within the cell for proper cell function.

Without an appropriate enzyme balance, materials within the cell can accumulate and sometimes become toxic causing the cell to either not function properly or die.

Many vital organs such as the liver, the brain and more, can be affected.

What causes metabolic storage diseases?

Metabolic storage diseases are almost always inherited disorders (typically a single gene or enzyme) that are passed down from both parents to child.

What are the signs and symptoms of metabolic storage diseases?

Signs and symptoms vary widely based on which enzyme is deficient, and which cells/organ of the body are impacted. They are called storage diseases because the lack of enzymes to break down materials in the cells causes material to accumulate in the cells over time. As excess material accumulates in cells and the cells don't function properly, different parts of the body may be affected.

Symptoms can include:

  • Enlarged organs (enlarged tongue, liver, spleen, etc.)
  • Changes in the bones of the body (usually face and spine) due to enlarge organs
  • Recurrent infections
  • Impaired kidney function
  • Impaired brain function
  • Eye abnormalities
  • Heart abnormalities
  • Abnormal coarse facial features

What are metabolic storage disease care options?

As there appears, at this time to be almost 50 storage diseases, treatments vary and will depend on the underlying disease and its signs and symptoms. Your specialist pediatrician will outline and explain all the options available.

Reviewed by: Parul B Jayakar, MD

This page was last updated on: April 11, 2022 04:10 PM

Clinical Genetics

Our clinical geneticists and genetic counselors at Nicklaus Children's Hospital evaluate children with developmental delays, unusual facial features, metabolic disorders, seizures, craniofacial anomalies and failure to thrive.

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