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What tests do doctors use to diagnose lysosomal storage disorders?

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Lysosomal storage disorder is an inherited condition that happens when you’re missing important enzymes that help your body break down proteins, carbs, and other substances. Your doctor can run blood tests on your baby to look for the missing enzyme.

Other diagnostic tests include:

Finding these diseases early is key. Treatments can slow lysosomal storage disorders and improve your child's outlook.

  • MRI uses powerful magnets and radio waves to make pictures of the brain.
  • Biopsy removes a small piece of tissue, which is checked under a microscope for signs of disease.

From: What Are Lysosomal Storage Disorders? WebMD Medical Reference

SOURCES: MLD Foundation: "What is MLD?"

Mount Sinai Hospital: "Lysosomal Storage Disease."

National Fabry Disease Foundation: "Symptoms Overview." "What Is Fabry Disease?"

National Gaucher Foundation: "Symptoms of Gaucher Disease." "What Is Gaucher Disease?"

National Human Genome Research Institute: "Learning About Gaucher Disease." "Learning About Tay-Sachs Disease."

National MPS Society: "MPS Diseases."

National Niemann-Pick Disease Foundation, Inc.: "Niemann-Pick Disease Overview."

National Organization for Rare Disorders: "Lysosomal Storage Disorders."

"Mucopolysaccharidoses." "Pompe Disease."

National Tay-Sachs & Allied Diseases Association: "Lysosomal Storage Diseases."

United Leukodystrophy Foundation: "Krabbe Disease."

National Tay-Sachs & Allied Diseases Association of Delaware Valley: "Tay-Sachs Disease."

U.S. National Library of Medicine: "Krabbe Disease." "Metachromatic leukodystrophy." "Pompe Disease." "Tay-Sachs Disease."

Elmhurst College, “Role of Enzymes in Biochemical Reactions.”

Reviewed by Dan Brennan on October 17, 2018

SOURCES: MLD Foundation: "What is MLD?"

Mount Sinai Hospital: "Lysosomal Storage Disease."

National Fabry Disease Foundation: "Symptoms Overview." "What Is Fabry Disease?"

National Gaucher Foundation: "Symptoms of Gaucher Disease." "What Is Gaucher Disease?"

National Human Genome Research Institute: "Learning About Gaucher Disease." "Learning About Tay-Sachs Disease."

National MPS Society: "MPS Diseases."

National Niemann-Pick Disease Foundation, Inc.: "Niemann-Pick Disease Overview."

National Organization for Rare Disorders: "Lysosomal Storage Disorders."

"Mucopolysaccharidoses." "Pompe Disease."

National Tay-Sachs & Allied Diseases Association: "Lysosomal Storage Diseases."

United Leukodystrophy Foundation: "Krabbe Disease."

National Tay-Sachs & Allied Diseases Association of Delaware Valley: "Tay-Sachs Disease."

U.S. National Library of Medicine: "Krabbe Disease." "Metachromatic leukodystrophy." "Pompe Disease." "Tay-Sachs Disease."

Elmhurst College, “Role of Enzymes in Biochemical Reactions.”

Reviewed by Dan Brennan on October 17, 2018

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How are lysosomal storage disorders treated?

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