Alpha-mannosidosis is a genetic disorder of metabolism characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and mental retardation. The disorder is caused by lysosomal α-mannosidase deficiency and is inherited in an autosomal recessive fashion.
What causes Aspartylglucosaminuria?
Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes , which are structures inside cells that act as recycling centers.
What is beta Mannosidosis?
Beta-mannosidosis is a rare inherited disorder affecting the way certain sugar molecules are processed in the body. Signs and symptoms of beta-mannosidosis vary widely in severity, and the age of onset ranges between infancy and adolescence.
What causes Sialidosis?
Sialidosis is caused by mutations of the NEU1 gene. This gene mutation is inherited as an autosomal recessive trait. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.
What is beta Mannosidosis in animals?
Biology and Diseases of Ruminants (Sheep, Goats, and Cattle)
Beta mannosidosis is an autosomal recessive lysosomal storage disease of goats. The disease affects kids of the Nubian breed and is identified by intention tremors and difficulty or inability of newborns to stand.
What causes AGU?
AGU is caused by a deficiency or lack of activity in the aspartylglucosaminidase (AGA) enzyme. The deficiency of this enzyme activity leads to toxic deposits in cells, causing cellular dysfunction across multiple organ systems, the most debilitating of which is in the central nervous system, including the brain.
Is AGU fatal?
Aspartylglucosaminuria (AGU) is a rare, fatal metabolic disease that effects the mental and physical development of children. As this disorder progresses, patients are often diagnosed with autism spectrum disorder (PDD-NOS or Asperger Syndrome).
What is the cause of alpha-Mannosidosis?
Alpha-mannosidosis is caused by mutations of the MAN2B1 gene. This genetic mutation is inherited as an autosomal recessive trait. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders.
How is Niemann Pick disease inherited?
The Niemann-Pick gene mutations are passed from parents to children in a pattern called autosomal recessive inheritance. This means that both the mother and the father must pass on the defective form of the gene for the child to be affected. Niemann-Pick is a progressive disease, and there is no cure.
What are the lysosomal storage disorders and what are the symptoms?
Symptoms of Lysosomal Storage Diseases
- Delay in intellectual and physical development.
- Seizures.
- Facial and other bone deformities.
- Joint stiffness and pain.
- Difficulty breathing.
- Problems with vision and hearing.
- Anemia, nosebleeds, and easy bleeding or bruising.
- Swollen abdomen due to enlarged spleen or liver.
What is Mucolipidosis?
Definition. The mucolipidoses (ML) are a group of inherited metabolic diseases that affect the body’s ability to carry out the normal turnover of various materials within cells. In ML, abnormal amounts of carbohydrates and fatty materials (lipids) accumulate in cells.
What is Fabry disease?
Fabry disease is a rare inherited disorder of glycosphingolipid (fat) metabolism resulting from the absent or markedly deficient activity of the lysosomal enzyme, α-galactosidase A (α-Gal A). This disorder belongs to a group of diseases known as lysosomal storage disorders.
How do people get Pompe?
Pompe disease is a rare (estimated at 1 in every 40,000 births), inherited and often fatal disorder that disables the heart and skeletal muscles. It is caused by mutations in a gene that makes an enzyme called acid alpha-glucosidase (GAA).
How is Shay disease?
Overview. Gaucher (go-SHAY) disease is the result of a buildup of certain fatty substances in certain organs, particularly your spleen and liver. This causes these organs to enlarge and can affect their function.
What is ataxia telangiectasia?
Ataxia-telangiectasia (A-T) is a hereditary condition characterized by progressive neurologic problems that lead to difficulty walking and an increased risk of developing various types of cancer. Signs of A-T often develop in childhood.
What is Farber’s disease?
Farber’s disease, also known as Farber’s lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system.
What is Galactosialidosis?
Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
What causes I cell disease?
I-cell disease is caused by a mutation in the GNPTA gene that leads to a deficiency in the enzyme UDP-N-acetylglucoseamine-1-phosphotransferase. I-cell disease is inherited as an autosomal recessive genetic trait.
What is the most common lysosomal storage disease?
Gaucher Disease Types I, II, and III: Gaucher disease is the most common type of lysosomal storage disorder. Researchers have identified three distinct types of Gaucher disease based upon the absence (type I) or presence and extent of (types II and III) neurological complications.
Why are lysosomal diseases fatal?
Lysosomes are sacs of enzymes within cells that digest large molecules and pass the fragments on to other parts of the cell for recycling. This process requires several critical enzymes. If one of these enzymes is defective due to a mutation, the large molecules accumulate within the cell, eventually killing it.
Why lysosomes are called suicidal bags?
Lysosomes are known as the suicidal bag of the cell because it is capable of destroying its own cell in which it is present. It contains many hydrolytic enzymes which are responsible for the destruction process. This happens when either the cell is aged or gets infected by foreign agents like any bacteria or virus.
Is Niemann-Pick disease type C fatal?
Niemann-Pick type C is always fatal. However, life expectancy depends on when symptoms begin. If symptoms appear in infancy, your child isn’t likely to live past the age of 5. If symptoms appear after 5 years of age, your child is likely to live until about 20 years of age.