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Disease Library

Lysosomal Storage Disorders

Comprehensive information on 44 types of LSDs — their symptoms, causes, diagnosis, and available treatments.

Showing 1–10 of 44 disorders

Alpha-Mannosidosis

Also: Alpha-D-mannosidase deficiency +1 more

Autosomal Recessive

Alpha-mannosidosis occurs when the enzyme Alpha- D- mannosidase functions minimally than is required

Common Symptoms

  • Intellectual incapability
  • Prominent facial features
  • Osteopenia or minimized bone density
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Aspartylglucosaminuria

Also: AGA deficiency +6 more

Autosomal Recessive

Aspartylglucosaminuria is a lysosomal storage disorder

Common Symptoms

  • Delayed speech
  • Mild intellectual disability
  • Problems coordinating movements
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Beta-Mannosidosis

Also: Beta-D-mannosidosis +2 more

Autosomal Recessive

Beta-mannosidosis (β-mannosidosis) is an extremely exclusive disorder that is genetically inherited and belongs to a bigger segment of disorders

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Cholesteryl Ester Storage Disease

Also: CESD +2 more

Autosomal Recessive

Cholesteryl Ester Storage Disease is caused by mutations in the LIPA gene, which provides instructions for making the enzyme lysosomal acid lipase (LAL)

Common Symptoms

  • Enlarged liver, sometimes progressing to fibrosis or cirrhosis
  • Elevated LDL cholesterol and low HDL cholesterol
  • Fatty liver disease (hepatic steatosis)
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COG Complex Deficiency

Also: CDG +1 more

X-linked Recessive

The Congenital Disorders of Glycosylation (CDG) are classifications of heavy-duty genetic ailments and can range from moderate to severely endangering life

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Cystinosis

Also: Cystine storage disease +5 more

Autosomal Recessive

Cystinosis is caused by a problem in the CTNS gene

Common Symptoms

  • Poor growth
  • Kidney damage
  • Soft, bowed bones (hypophosphatemic rickets)
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Danon Disease

Also: Antopol disease +4 more

Inherited

The LAMP2- gene if faulty can cause Danon Disease

Common Symptoms

  • Dilated cardiomyopathy or enlargement and deterioration of the heart muscles
  • Hypertrophic cardiomyopathy or thickening of the muscles of the heart
  • Skeletal myopathy or enfeebling of the motor coordination muscles
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Fabry Disease

Also: Alpha-galactosidase A deficiency +8 more

Inherited

If there is an enzyme deficit in the lysosomes, it causes a class of hereditary metabolic diseases (lysosomal storage disorders) and Fabery Disease is one of t…

Common Symptoms

  • Hypohidrosis or the incapacity to or minimal sweating
  • Gradual kidney deterioration which may cause renal failure
  • Cardiac and/or cerebrovascular disease
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Farber Disease

Also: Farber lipogranulomatosis +2 more

Inherited

A shortage of the enzyme acid ceramidase causes a lesser- known lysosomal storage disorder called the Farber disease

Common Symptoms

  • Failure to thrive and poor growth
  • Developmental delay
  • Enlarged liver and spleen (hepatosplenomegaly)
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Free Sialic Acid Storage Disease

Also: FSASD +2 more

Autosomal Recessive

Free Sialic Acid Storage Disease is caused by mutations in the SLC17A5 gene, which encodes a lysosomal membrane protein called sialin

Common Symptoms

  • Hydrops fetalis (fluid buildup before birth) in some cases
  • Coarse facial features and enlarged liver and spleen
  • Severe developmental delay
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