Lysosomal storage disease - AbsoluteAstronomy.com

Lysosomal storage diseases (LSDs; icon) are a group of approximately 50 rare inherited metabolic disorders that result from defects in lysosomal

Lysosome

thumb|350px|Schematic of typical animal cell, showing subcellular components. [[Organelle]]s: [[nucleoli]] [[cell nucleus|nucleus]] [[ribosomes]] [[vesicle |vesicle]] rough [[endoplasmic reticulum]]...

function. Lysosomal storage diseases result when a specific organelle

Organelle

In cell biology, an organelle is a specialized subunit within a cell that has a specific function, and is usually separately enclosed within its own lipid bilayer....

in the body's cells

Cell (biology)

The cell is the basic structural and functional unit of all known living organisms. It is the smallest unit of life that is classified as a living thing, and is often called the building block of life. The Alberts text discusses how the "cellular building blocks" move to shape developing embryos....

– the lysosome

Lysosome

– malfunctions.

Lysosomal storage disorders are caused by lysosomal dysfunction usually as a consequence of deficiency of a single enzyme required for the metabolism

Metabolism

Metabolism is the set of chemical reactions that happen in the cells of living organisms to sustain life. These processes allow organisms to grow and reproduce, maintain their structures, and respond to their environments. Metabolism is usually divided into two categories...

of lipids, glycoproteins (sugar containing proteins) or so-called mucopolysaccharides. Individually, LSDs occur with incidences of less than 1:100,000; however, as a group the incidence is about 1:5,000 - 1:10,000. Most of these disorders are autosomal recessively inherited, however a few are X-linked recessive

X-linked recessive

X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on...

ly inherited, such as Fabry disease and Hunter syndrome

Hunter syndrome

Hunter syndrome, or mucopolysaccharidosis Type II, is a lysosomal storage disease caused by a deficient enzyme, iduronate-2-sulfatase . The syndrome is named after physician Charles A. Hunter , who first described it in 1917...

(MPS II).

The lysosome

Lysosome

is commonly referred to as the cell’s recycling center because it processes unwanted material into substances that the cell can utilize. Lysosomes break down this unwanted matter via enzymes, highly specialized proteins essential for survival. Lysosomal disorders are triggered when a particular enzyme exists in too small an amount or is missing altogether. When this happens, substances accumulate in the cell. In other words, when the lysosome doesn’t function normally, excess products destined for breakdown and recycling are stored in the cell.

Like other genetic diseases, individuals inherit lysosomal storage diseases from their parents. Although each disorder results from different gene mutations that translate into a deficiency in enzyme activity, they all share a common biochemical characteristic – all lysosomal disorders originate from an abnormal accumulation of substances inside the lysosome

Lysosome

.

Lysosomal storage diseases affect mostly children and they often die at a young and unpredictable age, many within a few months or years of birth. Many other children die of this disease following years of suffering from various symptoms of their particular disorder.

Symptoms

The symptoms of lysosomal storage disease vary, depending on the particular disorder and other variables like the age of onset, and can be mild to severe. They can include developmental delay, movement disorders, seizures, dementia

Dementia

Dementia is a serious loss of cognitive ability in a previously unimpaired person, beyond what might be expected from normal aging...

, deafness and/or blindness

Blindness

Blindness is the condition of lacking visual perception due to physiological or neurological factors.Various scales have been developed to describe the extent of vision loss and define blindness...

. Some people with Lysosomal storage disease have enlarged livers (hepatomegaly

Hepatomegaly

Hepatomegaly is the condition of having an enlarged liver. It is a nonspecific medical sign having many causes, which can broadly be broken down into infection, direct toxicity, hepatic tumours, or metabolic disorder. Often, hepatomegaly will present as an abdominal mass...

) and enlarged spleens (splenomegaly

Splenomegaly

Splenomegaly is an enlargement of the spleen. The spleen usually lies in the left upper quadrant of the human abdomen. It is one of the four cardinal signs of hypersplenism, some reduction in the number of circulating blood cells affecting granulocytes, erythrocytes or platelets in any...

), pulmonary and cardiac problems, and bones that grow abnormally.

Diagnosis

The majority of patients are initially screened by enzyme assay, which is the most efficient method to arrive at a definitive diagnosis. In some families where the disease-causing mutation(s) is known and in certain genetic isolates, mutation analysis may be performed. In addition, after a diagnosis is made by biochemical means, mutation analysis may be performed for certain disorders.

Treatment

There are no cures for lysosomal storage diseases and treatment is mostly symptomatic, although bone marrow transplantation and enzyme replacement therapy

Enzyme replacement therapy

Enzyme replacement therapy is a medical treatment replacing an enzyme in patients in whom that particular enzyme is deficient or absent. Usually this is done by giving the patient an intravenous infusion containing the enzyme...

(ERT) have been tried with some success. In addition, umbilical cord blood transplantation is being performed at specialized centers for a number of these diseases. In addition, substrate reduction therapy

Substrate reduction therapy

Substrate reduction therapy offers an approach to treatment of certain metabolic disorders, especially glycogen storage diseases and lysosomal storage disorders. In a storage disorder, a critical failure in a metabolic pathway prevents cellular breakdown and disposal of some large molecule...

, a method used to decrease the accumulation of storage material, is currently being evaluated for some of these diseases. Furthermore, chaperone therapy, a technique used to stabilize the defective enzymes produced by patients, is being examined for certain of these disorders. The experimental technique of gene therapy

Gene therapy

Gene therapy is the insertion, alteration, or removal of genes within an individual's cells and biological tissues to treat disease. It is a technique for correcting defective genes that are responsible for disease development...

may offer cures in the future.

History

Tay-Sachs disease

Tay–Sachs disease is an autosomal recessive genetic disorder...

was the first of these disorders to be described, in 1881, followed by Gaucher disease in 1882. In the late 1950s and early 1960s, de Duve and colleagues, using cell fractionation techniques, cytological studies and biochemical analyses, identified and characterized the lysosome as a cellular organelle responsible for intracellular

Intracellular

Not to be confused with intercellular, meaning "between cells".In cell biology, molecular biology and related fields, the word intracellular means "inside the cell".It is used in contrast to extracellular...

digestion and recycling of macromolecules. This was the scientific breakthrough that would lead to the understanding of the physiological basis of the Lysosomal Storage Diseases. Pompe disease was the first disease to be identified as an LSD in 1963, with L. Hers reporting the cause as a deficiency of α-glucosidase. Hers also suggested that other diseases, such as the Mucopolysaccharidosis

Mucopolysaccharidosis

Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...

, might be due to enzyme

Enzyme

Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates...

deficiencies.

Standard classification

The lysosomal storage diseases are generally classified by the nature of the primary stored material involved, and can be broadly broken into the following: (ICD-10

ICD

The International Statistical Classification of Diseases and Related Health Problems is a medical classification that provides codes to classify diseases and a wide variety of signs, symptoms, abnormal findings, complaints, social circumstances, and external causes of injury or disease...

codes are provided where available)

(E75) lipid storage disorder
Lipid storage disorder
Lipid storage disorders are a group of inherited metabolic disorders in which harmful amounts of lipids accumulate in some of the body’s cells and tissues. People with these disorders either do not produce enough of one of the enzymes needed to metabolize lipids or they produce enzymes that do...

s, mainly sphingolipidoses
Sphingolipidoses
-Accumulated products:* Gangliosides: Gangliosidosis** GM1 gangliosidoses** GM2 gangliosidoses*** Tay-Sachs disease*** Sandhoff disease* Glycolipids** Fabry's disease** Krabbe disease** Metachromatic leukodystrophy*Glucocerebrosides**Gaucher's disease...

(including Gaucher's
Gaucher's disease
Gaucher's disease is a genetic disease in which a fatty substance accumulates in cells and certain organs.Gaucher's disease is the most common of the lysosomal storage diseases. It is caused by a hereditary deficiency of the enzyme glucosylceramidase. The enzyme acts on the fatty acid...

and Niemann-Pick disease
Niemann-Pick disease
Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...

s)
- (E75.0-E75.1) gangliosidosis
  Gangliosidosis
  Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.-See also:...
  
  (including Tay-Sachs disease
  Tay-Sachs disease
  Tay–Sachs disease is an autosomal recessive genetic disorder...
  
  )
- (E75.2) leukodystrophies
  Leukodystrophy
  Leukodystrophy refers to a group of disorders characterized by dysfunction of the white matter of the brain. The leukodystrophies are caused by imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers...
(E76.0) mucopolysaccharidoses
Mucopolysaccharidosis
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans - long chains of sugar carbohydrates in each of our cells that help build bone, cartilage, tendons, corneas, skin and...

(including Hunter syndrome
Hunter syndrome
Hunter syndrome, or mucopolysaccharidosis Type II, is a lysosomal storage disease caused by a deficient enzyme, iduronate-2-sulfatase . The syndrome is named after physician Charles A. Hunter , who first described it in 1917...

and Hurler disease)
(E77) glycoprotein storage disorder
Glycoproteinosis
Glycoproteinosis are lysosomal storage diseases affecting glycoproteins, resulting from defects in lysosomal function. The term is sometimes reserved for conditions involving degradation of glycoproteins.-Types:...

s
(E77.0-E77.1) mucolipidoses
Mucolipidosis
Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells....

Also, Glycogen storage disease type II

Glycogen storage disease type II

Glycogen storage disease type II is an autosomal recessive metabolic disorder which damages muscle and nerve cells throughout the body. It is caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase enzyme...

(Pompe disease) is also a defect in lysosomal metabolism, although it is otherwise classified into E74.0 in ICD-10.

By type of defect protein

Alternatively to the protein targets, lysosomal storage diseases may be classified by the type of protein that is deficient and is causing buildup.

Type of defect protein	Disease examples	Deficient protein
Lysosomal enzymes Enzyme Enzymes are proteins that catalyze chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical reactions in a biological cell need enzymes in order to occur at rates... primarily	Tay-Sachs disease Tay-Sachs disease Tay–Sachs disease is an autosomal recessive genetic disorder... , I-cell disease, Sphingolipidoses Sphingolipidoses -Accumulated products:* Gangliosides: Gangliosidosis GM1 gangliosidoses GM2 gangliosidoses* Tay-Sachs disease* Sandhoff disease* Glycolipids Fabry's disease Krabbe disease** Metachromatic leukodystrophyGlucocerebrosides*Gaucher's disease... (e.g., gangliosidosis Gangliosidosis Gangliosidosis is a lipid storage disorder caused by the accumulation of lipids known as gangliosides. There are two distinct genetic causes of the disease. Both are autosomal recessive and affect males and females equally.-See also:... , Gaucher and Niemann-Pick disease Niemann-Pick disease Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate... )	Various
Posttranslational modification Posttranslational modification Posttranslational modification is the chemical modification of a protein after its translation. It is one of the later steps in protein biosynthesis, and thus gene expression, for many proteins.... of enzymes	Multiple sulfatase deficiency Multiple sulfatase deficiency Multiple sulfatase deficiency is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes...	Multiple sulfatases
Membrane transport proteins	Mucolipidosis Mucolipidosis Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells.... type II and IIIA	N-acetylglucosamine-1-phosphate transferase N-acetylglucosamine-1-phosphate transferase N-acetylglucosamine-1-phosphate transferase is a transferase enzyme.It is associated with the following conditions:* mucolipidosis II alpha/beta - GNPTAB* mucolipidosis III alpha/beta - GNPTAB...
Enzyme protecting proteins	Galactosialidosis Galactosialidosis Galactosialidosis is a lysosomal storage disease.It is associated with cathepsin A.-External links:*...	Cathepsin A Cathepsin A Cathepsin A is an enzyme which is classified both as a cathepsin and a carboxypeptidase. In humans, it is encoded by the CTSA gene.- Function :...
Soluble nonenzymatic proteins	GM2-AP deficiency, variant AB, Niemann-Pick disease, type C2 Niemann-Pick disease, type C Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick Type C strikes an estimated 1:150,000 people...	GM2-AP, NPC2 NPC2 NPC2 is a protein associated with Niemann-Pick disease, type C....
Transmembrane proteins	SAP deficiency	Sphingolipid activator proteins
	Niemann-Pick disease, type C1 Niemann-Pick disease, type C Niemann-Pick type C is a lysosomal storage disease associated with mutations in NPC1 and NPC2 genes. Niemann-Pick Type C strikes an estimated 1:150,000 people...	NPC1 NPC1 Niemann-Pick disease, type C1 also known as NPC1 is a protein which in humans is encoded by the NPC1 gene.NPC1 was identified as the gene that when mutated, results in Niemann-Pick disease, type C...
	Salla disease Salla disease Salla disease , also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland...	Sialin
Unless else specified in boxes, then ref is:

Alphabetical list

Following are lysosomal storage diseases in alphabetical order:

Activator Deficiency/GM2 Gangliosidosis

Alpha-mannosidosis

Alpha-mannosidosis

Alpha-mannosidosis is a lysosomal storage disorder caused by deficient activity of the enzyme alpha-D-mannosidase . In humans it is known to be caused by an autosomal recessive genetic mutation...

Aspartylglucosaminuria

Aspartylglucosaminuria , also called aspartylglycosaminuria, is a rare, autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme N-aspartyl-beta-glucosaminidase . This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...

Cholesteryl ester storage disease

Cholesteryl Ester Storage Disease is the late onset phenotype for Lysosomal Acid Lipase Deficiency, a Lysosomal storage disease, which also has an early onset phenotype known as Wolman disease that primarily affects infants. CESD can present in childhood but often goes unrecognized until...

Chronic Hexosaminidase A Deficiency

Cystinosis

Cystinosis

Cystinosis is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. It is a genetic disorder that typically follows an autosomal recessive inheritance pattern. Cystinosis is the most common cause of Fanconi syndrome in the pediatric age group...

Danon disease

Danon disease is a metabolic disorder.Danon disease is associated with heart muscle abnormalities resembling severe hypertrophic cardiomyopathy.It is associated with LAMP2...

Fabry disease

Farber disease

Farber disease

Farber disease is an extremely rare autosomal recessive lysosomal storage disease that cause an accumulation of fatty material lipids leading to abnormalities in the joints, liver, throat, tissues and central nervous system...

Fucosidosis

Fucosidosis, also called alpha-l-fucosidase deficiency, is a rare autosomal recessive lysosomal storage disease in which the enzyme fucosidase is not properly used in the cells to break down fucose. This enzyme normally cleaves long sugar chains known as oligosaccharides in the lysosome...

Galactosialidosis

Galactosialidosis is a lysosomal storage disease.It is associated with cathepsin A.-External links:*...

Gaucher Disease

Type I
Type II
Type III

GM1 gangliosidosis

Infantile
Late infantile/Juvenile
Adult/Chronic

I-Cell disease/Mucolipidosis

Mucolipidosis

Mucolipidosis is a group of inherited metabolic disorders that affect the body's ability to carry out the normal turnover of various materials within cells....

II

Infantile Free Sialic Acid Storage Disease/ISSD

Juvenile Hexosaminidase A Deficiency

Krabbe disease

Krabbe disease

Krabbe disease is a rare, often fatal degenerative disorder that affects the myelin sheath of the nervous system. This condition is inherited in an autosomal recessive pattern...

Infantile Onset
Late Onset

Lysosomal acid lipase deficiency

Lysosomal Acid Lipase Deficiency

Lysosomal Acid Lipase Deficiency happens when the body does not produce enough active LAL enzyme. Under normal conditions, the body produces an enzyme called lysosomal acid lipase . This enzyme plays an important role in breaking down fatty material in the body...

Early onset
Late onset

Metachromatic Leukodystrophy

Metachromatic leukodystrophy

Metachromatic leukodystrophy is a lysosomal storage disease which is commonly listed in the family of leukodystrophies. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous...

Mucopolysaccharidoses disorders

Pseudo-Hurler polydystrophy/Mucolipidosis IIIA
MPSI Hurler Syndrome
Hurler syndrome
Hurler syndrome, also known as mucopolysaccharidosis type I , Hurler's disease, also gargoylism, is a genetic disorder that results in the buildup of glycosaminoglycans due to a deficiency of alpha-L iduronidase, an enzyme responsible for the degradation of mucopolysaccharides in lysosomes...
MPSI Scheie Syndrome
Scheie syndrome
Scheie syndrome ") is less severe version of Hurler's disease. It is a condition characterized by corneal clouding, facial dysmorphism, and normal lifespan but unlike Hurler's, disease has normal intellect and ....
MPS I Hurler-Scheie Syndrome
MPS II Hunter syndrome
Hunter syndrome
Hunter syndrome, or mucopolysaccharidosis Type II, is a lysosomal storage disease caused by a deficient enzyme, iduronate-2-sulfatase . The syndrome is named after physician Charles A. Hunter , who first described it in 1917...
Sanfilippo syndrome
Sanfilippo syndrome
Sanfilippo syndrome, or Mucopolysaccharidosis III is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate .Although undegraded heparan sulfate is the primary stored substrate,...

Type A/MPS III A
Sanfilippo syndrome
Sanfilippo syndrome
Sanfilippo syndrome, or Mucopolysaccharidosis III is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate .Although undegraded heparan sulfate is the primary stored substrate,...

Type B/MPS III B
Sanfilippo syndrome
Sanfilippo syndrome
Sanfilippo syndrome, or Mucopolysaccharidosis III is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate .Although undegraded heparan sulfate is the primary stored substrate,...

Type C/MPS III C
Sanfilippo syndrome
Sanfilippo syndrome
Sanfilippo syndrome, or Mucopolysaccharidosis III is a rare autosomal recessive lysosomal storage disease. It is caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate .Although undegraded heparan sulfate is the primary stored substrate,...

Type D/MPS III D
Morquio Type A/MPS IVA
Morquio Type B/MPS IVB
MPS IX Hyaluronidase Deficiency
MPS VI Maroteaux-Lamy
MPS VII Sly Syndrome
Sly syndrome
Sly syndrome, also called Mucopolysaccharidosis Type VII or MPS, is an autosomal recessive lysosomal storage disease characterized by a deficiency of the enzyme β-glucuronidase, a lysosomal enzyme. Sly syndrome belongs to a group of disorders known as mucopolysaccharidoses, which are lysosomal...
Mucolipidosis I/Sialidosis
Sialidosis
Mucolipidosis type I or sialidosis is an inherited lysosomal storage disease that results from a deficiency of the enzyme sialidase. The lack of this enzyme results in an abnormal accumulation of complex carbohydrates known as mucopolysaccharides, and of fatty substances known as mucolipids...
Mucolipidosis IIIC
Mucolipidosis type IV
Mucolipidosis type IV
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder. Individuals with the disorder have many symptoms including delayed psychomotor development and various ocular aberrations. The disorder is caused by mutations in the MCOLN1 gene, which encodes a non-selective cation...

Multiple sulfatase deficiency

Multiple sulfatase deficiency is a very rare autosomal recessive lysosomal storage disease caused by a deficiency in multiple sulfatase enzymes...

Niemann-Pick Disease

Niemann-Pick disease

Niemann–Pick disease refers to a group of fatal inherited metabolic disorders that are included in the larger family of lysosomal storage diseases .-Signs and symptoms:Symptoms are related to the organs in which they accumulate...

Type A
Type B
Type C

Neuronal Ceroid Lipofuscinoses

CLN6
CLN6
Ceroid-lipofuscinosis neuronal protein 6 is a protein that in humans is encoded by the CLN6 gene.-External links:* -Further reading:...

disease - Atypical Late Infantile, Late Onset variant, Early Juvenile
Batten
Batten
A batten is a thin strip of solid material, typically made from wood, plastic or metal. Battens are used in building construction and various other fields as both structural and purely cosmetic elements...

-Spielmeyer-Vogt/Juvenile NCL/CLN3
CLN3
Battenin is a protein that in humans is encoded by the CLN3 gene located on chromosome 16.- Function :Battenin is involved in lysosomal function. Many alternatively spliced transcript variants have been found for this gene.-Clinical significance:...

disease
Finnish Variant Late Infantile CLN5
CLN5
Ceroid-lipofuscinosis neuronal protein 5 is a protein that in humans is encoded by the CLN5 gene.-External links:* -Further reading:...
Jansky-Bielschowsky disease
Jansky-Bielschowsky disease
Jansky-Bielschowsky disease is a late-infantile form of neuronal ceroid lipofuscinosis associated with a deficiency in tripeptidyl peptidase I....

/Late infantile CLN2/TPP1 Disease
Kufs/Adult-onset NCL/CLN4 disease
Northern Epilepsy/variant late infantile CLN8
CLN8
Protein CLN8 is a protein that in humans is encoded by the CLN8 gene.-Molecular biology:-Clinical:Mutations in this gene are associated with progressive epilepsy with mental retardation , a subtype of neuronal ceroid lipofuscinosis...
Santavuori-Haltia/Infantile CLN1/PPT disease
Beta-mannosidosis
Beta-mannosidosis
Beta-mannosidosis, also called lysosomal beta-mannosidase deficiency, is a rare autosomal recessiveform of mannosidosis associated with MANBA....

Pompe disease/Glycogen storage disease type II

Glycogen storage disease type II

Pycnodysostosis

Pycnodysostosis from , dys , and ostosis , is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K.-Genetics:...

Sandhoff disease

Sandhoff disease, also known as Sandhoff-Jatzkewitz disease, variant 0 of GM2-Gangliosidosis or Hexosaminidase A and B deficiency, is a lysosomal genetic, lipid storage disorder caused by the inherited deficiency to create functional beta-hexosaminidases A and B...

/Adult Onset/GM2 Gangliosidosis

Sandhoff disease

Sandhoff disease

/GM2 gangliosidosis - Infantile

Sandhoff disease

Sandhoff disease

/GM2 gangliosidosis - Juvenile

Schindler disease

Schindler disease

Schindler disease, also known as Kanzaki disease and Alpha-N-acetylgalactosaminidase deficiency is a rare congenital metabolic disorder in humans...

Salla disease

Salla disease , also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessive lysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland...

/Sialic Acid Storage Disease

Tay-Sachs/GM2 gangliosidosis

Wolman disease

Wolman disease

Wolman Disease Wolman Disease Wolman Disease (also known as Wolman’s Disease, early onset LAL Deficiency, and Lysosomal acid lipase deficiency is a rare genetic disorder caused by a deficiency of an enzyme known as lysosomal acid lipase (LAL or LIPA). This enzyme is necessary to break down certain...

External links

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