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What is Fabry disease?

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Fabry disease is one type of lysosomal storage disorder, which happens when you’re missing important enzymes that help your body break down proteins, carbs, and other substances. Fabry disease affects your ability to make alpha-galactosidase A. This enzyme breaks down a fatty substance called globotriaosylceramide. Without the enzyme, this fat builds up in cells and damages them. You might have such symptoms as:

  • Pain, numbness, tingling, or burning in the hands and feet
  • Body aches
  • Fever
  • Tiredness
  • Red or purple skin sores
  • Trouble sweating
  • Swelling in the lower legs, ankles, and feet
  • Clouding of the cornea (the clear cover on the front of the eye)
  • Diarrhea, constipation, or both
  • Trouble breathing
  • Ringing in the ears and hearing loss
  • Dizziness
  • Unusual heart rhythms, heart attack, and stroke

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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What is Gaucher disease?

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