What are lysosomal storage diseases?

Lysosomal storage diseases are inherited metabolic disorders caused by defects in the gene that encodes lysosomal enzymes, leading to enzyme deficiency.1 These enzymes break down and help to recycle macromolecules such as carbohydrates, lipids, nucleic acids and proteins, and are pivotal for cellular communication, response to infection and homeostasis.1,2 Lysosomal storage diseases affect the chemical composition of the lysosomal storage material and can be divided into three broad groups: sphingolipidoses, mucopolysaccharidoses and glycoproteinoses.3

Mutations in the genes that encode lysosomal proteins (e.g. lysosomal glycosidases, proteases, integral membrane proteins, transporters, and enzyme modifiers or activators) can affect the functionality of the encoded protein, leading to the gradual accumulation of substrates within lysosomes, which ultimately leads to cell dysfunction and cell death. Collectively, there are 70 monogenic disorders of lysosomal catabolism, the majority of which are inherited as autosomal recessive traits, with only three linked to the X chromosome.1Gaucher disease is one of the most prevalent lysosomal storage diseases,4-8 with the estimated worldwide prevalence ranging from 0.70 to 1.75 per 100,000 individuals, and a birth incidence ranging from 0.39 to 5.80 per 100,000 individuals.9 However, compared with the general population, the prevalence of Gaucher disease is higher in the Ashkenazi Jewish population, affecting approximately 1 in 850 individuals, with a carrier frequency of 1:17.10-12

Lysosomal storage diseases often present in infancy and childhood, but late-onset disease can occur in adulthood.1 Clinical features of lysosomal storage diseases are heterogeneous, but may include enlargement of abdominal organs and skeletal dysmorphia, which can be associated with developmental delay or other deficits associated with the central nervous system.1,13 Diagnosis of lysosomal storage diseases is based on clinical symptoms and diagnostic testing, including enzymatic analysis and single gene sequencing. Patients may present with a continuum of disease severity. Diagnosis may be delayed, especially in milder cases with longer survival, if clinical symptoms are similar to other more common conditions.1

Despite the complex cellular pathogenesis of lysosomal storage diseases, several can be treated with approved treatments such as enzyme replacement therapy.1

C-ANPROM/INT//7566; Date of preparation: September 2020

 
icon

Introducing

Steps towards a brighter future for patients with Gaucher disease

 

An interactive video experience

LAUNCH
thumbnail-image
icon

Interactive case study

Getting the diagnosis right in children & adolescents
FIND OUT MORE
thumbnail-image
icon

BURDEN OF DISEASE

Gaucher disease & multiple myeloma
FIND OUT MORE
thumbnail-image
icon

Interactive case study

Gaucher disease & Parkinson's disease
FIND OUT MORE
thumbnail-image
icon

Interactive case study

Getting the diagnosis right in adults
FIND OUT MORE
icon

Events

WORLDSymposiumTM 2022 congress reports

 

The WORLDSymposium™ was held as a hybrid meeting this year (7–11 February 2022) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

Read more
icon

Brochure

Diagnosing Gaucher disease


Early diagnosis is essential in implementing the appropriate patient assessment and management plans as soon as possible.

DOWNLOAD
thumbnail-image
icon

Brochure

Diagnosing Gaucher disease in siblings


Early diagnosis can reduce the likelihood of irreversible organ damage and serious complications, as well as chronic pain and disabling symptoms. Genetic counselling and carrier testing can help to achieve this.

DOWNLOAD
thumbnail-image
icon

Infographic

Gene therapy


New treatment modalities are currently being researched for Gaucher disease. The feasibility of gene therapy for Gaucher disease is currently under investigation.

FIND OUT MORE
icon

Events

WORLDSymposiumTM 2021 congress reports


The WORLDSymposiumTM was held as a virtual meeting this year (7–12 February 2021) and brought together key opinion leaders from the field of lysosomal disorders and rare diseases.

Read more
icon

Events

The 14th European Working Group on Gaucher Disease (EWGGD) congress reports


The EWGGD was held as a virtual meeting for 2020 (12–13 October 2020) and covered key topics in the field of Gaucher disease.

Read more
icon

BURDEN OF DISEASE

Gaucher disease

What is Gaucher disease?

Gaucher disease is the most common form of the sphingolipidosis, a type of lysosomal storage disorder. It is a multisystemic chronic disease involving the liver, spleen, bone marrow and lymph nodes with familial aggregation.

Read more
icon

BURDEN OF DISEASE

Comorbidities of Gaucher disease

What comorbidities are associated with Gaucher disease?

Patients with Gaucher disease may experience a wide range of comorbidities, including: haematological malignancies; neurological disorders; metabolic disorders; immunological disorders; and gastrointestinal disorders.

Read more
icon

BURDEN OF DISEASE

Rare diseases

What is a rare disease?

According to The European Commission, a rare disease affects no more than 1 in 2000 individuals.

Read more
icon

Register

Registration gives the benefit of site update emails and additional information on new education materials and events

Registration