Diseases
Lysosomal Storage Disease
Description: Lysosomal Storage Disease (LSD) is a group of more than 40 genetic disorders caused by inborn errors of metabolism. People with LSD are either lacking or in short supply of particular enzymes that are found in the lysosome. Because of this, molecules that are meant to be broken down by the missing enzymes build up within the lysosome, and can prevent the cell from working properly. Most lysosomal storage diseases include: Battern disease; Fabry disease; Gaucher disease; Krabbe disease; Mucopolysacchiradosis I (MPS I/Hurler/Hurler-Scheie/Scheie); Mucopolysacchiradosis II (MPS II/Hunter Disease); Niemann-Pick disease; Pompe disease; and Tay-Sachs disease.
Mucopolysaccharidosis
Hurler syndrome
Description: also known as mucopolysaccharidosis type I (MPS I), is a genetic disorder that results in the deficiency of alpha-L induronidase, which is an enzyme that breaks down mucopolysaccharides.
| Longevity w/out meds: | 10 years old |
|---|---|
| Prevalence: | Worldwide: 1:10,000 |
Hunter Syndrome (MPS)
Description: Hunter Syndrome (MPS) also known as mucopolysaccharidosis II (MPS II), is a rare inborn error of metabolism characterized by deficiency of an enzyme known as iduronate sulfatase. The enzyme breaks down specific long sugar molecules in the body called glycosaminoglycans (GAGs) that are found in many parts of the body such as bone, joints, heart valves, etc.
Effect: Deficiency of iduronate sulfatase leads to the accumulation of GAGs in the above organs causing dysfunction.
Treatment:
- Enzyme Replacement Therapy (ERT)
- Supportive management of complications such as pneumonia, obstructive sleep, apnea, ear infections, etc.
- Rehabilitation therapy
| Longevity w/out meds: | 15-20 years old |
|---|---|
| Prevalence: | Worldwide – 1:40,000 |
Sanfilippo Syndrome
Description: also known as mucopolysaccharidosis III (MPS III) is a rare autosomal recessive lysosomal storage disease caused by a deficiency in one of the enzymes needed to break down the glycosaminoglycan heparan sulfate (which is found in the extra-cellular matrix and on cell surface glycoproteins).
Although undegraded heparan sulfate is the primary stored substrate, glycolipids such as gangliosides are also stored despite no genetic defect in the enzymes associated with their breakdown.
| Longevity w/out meds: | 8-10 years following onset of symptoms |
|---|---|
| Prevalence: | 1:70,000 |
Morquio Syndrome
Morquio syndrome is an inherited disease of metabolism in which the body is missing or doesn’t have enough of a substance needed to break down long chains of sugar molecules called glycosaminoglycans (formerly called mucopolysaccharides).
The syndrome belongs to a group of diseases called mucopolysaccharidoses (MPS). Specifically, it is known as MPS IV.
| Longevity w/out meds: | children with the more severe form may not live beyond their twenties or thirties. |
|---|---|
| Prevalence: | Worldwide 1:200,000 |
Source: http://www.nlm.nih.gov/medlineplus/ency/article/001206.htm
Pompe Disease
Description: POMPE DISEASE is a rare neuromuscular genetic disorder that occurs in babies, children, and adults who inherit a defective gene from their parents. There is a defect in a gene that is responsible for making an enzyme called acid alpha-glucosidase (GAA) which is either missing or in short supply.
Effect: Patients suffer progressive and debilitating muscular weakness resulting in severe physical disability and dependence on ventilatory support system. The heart and lungs eventually become weak and patients finally succumb to heart and/or pulmonary failure.
Treatment:
- Enzyme Replacement Therapy (ERT)
| Longevity w/out meds: | Infantile form – 12 months Delayed onset – 2nd-3rd decade of life |
|---|---|
| Prevalence: | Worldwide – 1:40,000 |
Gaucher Disease
Description: GAUCHER DISEASE is an inherited illness caused by a mutation in the glucocerebrosidase gene leading to the deficiency of glococerebrosidase. Glucocerebrosidase is an enzyme that breaks down a particular type of fat cell called glucocerebroside.
Effect: Deficiency in glucocerebrosidase enzyme leads to the accumulation of glucocerebrosides in the brain, liver, spleen, skeleton, and other parts of the body leading to dysfunction of these organs.
Treatment:
- Enzyme Replacement Therapy (ERT)
| Longevity w/out meds: | Type I 6-80 yrs old Type II 2 yrs old Type III 2-60 yrs old |
|---|---|
| Prevalence: | Worldwide-1 : 40,000 – 100,000 |
