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Lysosomal storage diseases

Last updated: May 26, 2021

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Lysosomal storage diseases are a group of inherited metabolic disorders caused by a deficiency of specific enzymes. This causes an accumulation of abnormal substances that are usually degraded within lysosomes, resulting in cell damage and death. These substances include specific lipids and glycoproteins such as sphingolipids, glycosaminoglycans, and gangliosides, among others. Lysosomal storage diseases have a progressive course and, depending on the exact disease and subtype, can also be fatal in early childhood.

Overview of lysosomal storage diseases
Disease Inheritance Pathophysiology Clinical features Diagnostic findings

Gaucher disease

Krabbe disease

Tay-Sachs disease

Fabry disease

Metachromatic leukodystrophy
  • -
Niemann-Pick disease
Hurler syndrome
  • Corneal clouding
Hunter syndrome
  • Aggressive behavior
I-cell disease
  • -
  • -

Sphingolipidoses are a group of lysosomal storage diseases caused by inherited deficiencies of lysosomal enzymes leading to alteration of sphingolipid catabolism. This will eventually lead to accumulation of pathologic cellular inclusions and cell damage, ultimately resulting in cell death. There are three main types of pathologic cellular inclusions:

“The Girl HaS Painted A Bone Meticulously on a Crumpled Tissue Paper:” Glucocerebrosidase, HepatoSplenomegaly, Pancytopenia, Avascular necrosis of the femur, Bone crises, Macrophage inclusions that resemble crumpled tissue paper.

“After they Hexed Tay's Sax, his playing became deficient.”

FABRYC: Foamy urine (Fabry nephropathy), α-galactosidase A deficiency/Angiokeratomas, Burning pain in hands and feet, Really sweaty/dry, YX genotype (male), Cardio-Cerebrovascular disease/Ceramide trihexoside accumulation.

No Man Pictures the Sphinx Proudly Holding Cherries:” Niemann-Pick disease (Sphingomyelinase deficiency, Progressive neurodegeneration, Hepatosplenomegaly, Cherry-red spots in the macula).

Mucopolysaccharidoses are a group of metabolic disorders that result in the impaired breakdown of glycosaminoglycans (previously known as mucopolysaccharides), due to mutations in lysosomal enzymes. At least nine different types of mucopolysaccharidosis have been identified. The two most common conditions are Hurler syndrome and Hunter syndrome. [13][14]

Overview of the most common mucopolysaccharidoses
Hurler syndrome (mucopolysaccharidosis type I) Hunter syndrome (mucopolysaccharidosis type II)
Clinical features

Hunters with good eyesight will catch the aggressive chupacabra active in TeXas:” Hunter syndrome (no corneal clouding, aggressive behavior, carpal tunnel syndrome, hyperactivity, and X-linked recessive inheritance).

Mucolipids are complex lipid polymers that contain sialic acid or a related substance. Mucolipidoses were originally phenotypically confused with the mucopolysaccharidoses. However, the storage material in tissues includes not only mucopolysaccharides but also lipids. Additionally, glycosaminoglycans are not present in the urine of patients with mucolipidosis, while patients affected by mucopolysaccharidoses may have mucopolysacchariduria. [15]

The four main types of mucolipidosis include:

  1. Krabbe disease. Updated: January 23, 2018. Accessed: January 24, 2018.
  2. Hexosaminidase A Deficiency.
  3. Gross SJ, Pletcher BA, Monaghan KG, Professional Practice and Guidelines Committee.. Carrier screening in individuals of Ashkenazi Jewish descent.. Genet Med. 2008; 10 (1): p.54-6. doi: 10.1097/GIM.0b013e31815f247c . | Open in Read by QxMD
  4. Fabry Disease.
  5. Arylsulfatase A Deficiency.
  6. Acid Sphingomyelinase Deficiency.
  7. Niemann-Pick Disease Type C.
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  12. White KK. Orthopaedic aspects of mucopolysaccharidoses. Rheumatology (Oxford). 2011; 50 (Suppl 5): p.v26-v33. doi: 10.1093/rheumatology/ker393 . | Open in Read by QxMD
  13. Cathey SS, Leroy JG, Wood T, et al. Phenotype and genotype in mucolipidoses II and III alpha/beta: a study of 61 probands.. J Med Genet. 2010; 47 (1): p.38-48. doi: 10.1136/jmg.2009.067736 . | Open in Read by QxMD
  14. Gaucher Disease.
  15. Balwani M, Fuerstman L, Kornreich R, Edelmann L, Desnick RJ. Type 1 Gaucher disease: significant disease manifestations in "asymptomatic" homozygotes.. Arch Intern Med. 2010; 170 (16): p.1463-9. doi: 10.1001/archinternmed.2010.302 . | Open in Read by QxMD
  16. Weiss K, Gonzalez A, Lopez G, Pedoeim L, Groden C, Sidransky E. The clinical management of Type 2 Gaucher disease.. Mol Genet Metab. 2015; 114 (2): p.110-122. doi: 10.1016/j.ymgme.2014.11.008 . | Open in Read by QxMD
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