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How are lysosomal storage disorders diagnosed?

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Lysosomal storage disorder happens when you’re missing important enzymes that help your body break down proteins, carbs, and other substances. Most people who have the disorder inherited it from their parents to their children. Usually, a child has to inherit the faulty gene from both parents. Your doctor can test for these disorders in your baby during pregnancy. If you have a child with symptoms, blood tests can look for the enzyme that's missing.

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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