In the last blog update, we discussed on Mucopolysaccharidoses (MPS) Disease series with MPS Type III, also known as Sanfilippo Syndrome. In today’s blog, we continue the series with the next variation of the disease; MPS Type IV. MPS Type IV is also known as Morquio syndrome. This metabolic condition is very rare to happen, in which the body cannot break down the GAGs chain, causing it to accumulate in lysosome cells and can be inherited in an autosomal recessive manner. MPS type IV is divided into two forms such as type A and type B. Type A is mainly […]
The Mucopolysaccharidoses Disease Series: Type III
In the previous blog post, we have discussed on MPS Type II diseases, which gene is getting mutated and how the mutation affects the human body. We also talked about the symptoms for MPS Type II. Now, we will touch on MPS Type III. MPS III also known as Sanfilippo Syndrome causes the body unable to break down GAG mainly heparan sulfate which can lead to deterioration of neurological function. Sanfilippo syndrome is usually inherited in an autosomal recessive manner and mainly affects the brain and central nervous system. Types III-A, III-B, III-C, and III-D of MPS III are distinguishable […]
The Mucopolysaccharidoses Disease Series: Type II
On the previous blog post, we discussed on what Mucopolysaccharidoses Disease (MPS) is and how genetics play an important role for the disease. We also touched upon Type 1 of the MPS disease, what genes are involved and how the mutation cause changes to the human body. This week, we will talk about MPS Type II diseases. Different from type I, MPS type II is mainly affecting the IDS gene which caused the lack of IDS enzyme also known as iduronate 2-sulfatase (I2S). This enzyme is very important in the breakdown of large sugar molecules such as GAGs. This condition […]
The Mucopolysaccharidoses Disease Series: Type I
Before we jump dive right in, a lot of you may wonder what is Mucopolysaccharidoses (MPS) Disease? Most if not, all might never even hear of this disease. MPS are a group of disorders that fall under the inherited lysosomal storage disorders (LSD). LSD is caused by the defective function of lysosomes that is due to inborn errors which lead to the accumulation of excess substrates in cells of the organ. MPS was known to be inherited due to autosomal recessive traits. In the case of MPS, an aberrant build-up of specific complex carbohydrates (mucopolysaccharides or glycosaminoglycans) in the arteries, […]
Have You Ever Heard of Metachromatic Leukodystrophy?
Lysosomal storage disorders (LSDs) are inborn metabolic abnormalities characterized by the excessive accumulation of substrates in a variety of organ cells as a result of lysosome dysfunction. They contribute significantly to significant morbidity and mortality by causing malfunction in the organs where they accumulate. Dubbed as one of the most prevalent leukodystrophies in 2020, MLD has a prevalence rate of 1 occurrence in 40,000–160,000 births worldwide. Now what is metachromatic leukodystrophy? Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder. The inability to break down sulphated glycolipids, particularly the galactosyl-3-sulphate ceramides is one of its defining characteristics. It is brought on […]
What is Gaucher Disease?
Gaucher Disease is an inherited metabolic disorder characterized by the buildup of harmful amounts of certain fats (lipids), specifically the glycolipid glucocerebroside, throughout the body, most notably in the bone marrow, spleen, and liver. It’s one of the most common Lysosomal Storage Disease in Malaysia and Singapore with 3 occurrences in every 1 000 000 births. Symptoms Gaucher disease symptoms and physical findings differ greatly between patients. Some people have few or no symptoms (asymptomatic), while others may have serious complications. Common symptoms include an abnormally enlarged liver and/or spleen (hepatosplenomegaly), low levels of circulating red blood cells (anemia), low […]
Lysosomal Storage Disease – What YOU Need To Know
Lysosomes are membrane-enclosed organelles that contain an array of enzymes capable of breaking down proteins, nucleic acids, carbohydrates, and lipids. Lysosomes are enzyme sacs within cells that digest large molecules and recycle the fragments to other parts of the cell. Several critical enzymes are required for this process. If one of these enzymes becomes defective as a result of a mutation, the large molecules accumulate within the cell, eventually killing it. Lysosomal storage diseases (LSD) are a group of inherited genetic disorders caused by defective lysosomal metabolism and subsequent substrate accumulation. The abnormal accumulation of various toxic materials in the […]