What is alpha mannosidosis?
Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities.
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 Aspartylglucosaminuria?
Variants (also known as 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 Fucosidosis?
Fucosidosis is a condition that affects many areas of the body, especially the brain. Affected individuals have intellectual disability that worsens with age, and many develop dementia later in life.
What causes 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.
What type of disease is Mannosidosis?
Alpha mannosidosis is a lysosomal storage disorder, a form of inborn metabolic disease. It is characterized by intellectual disability , hearing loss , ataxia , skeletal abnormalities, and coarse facial features.
What is Mucolipidosis?
Mucolipidosis II alpha/beta (also known as I-cell disease) is a progressively debilitating disorder that affects many parts of the body. Most affected individuals do not survive past early childhood. At birth, children with mucolipidosis II alpha/beta are small and have weak muscle tone (hypotonia) and a weak cry.
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 type of mutation is Aspartylglucosaminuria?
Aspartylglucosaminuria (AGU) is a recessively inherited metabolic disorder caused by the deficiency of a lysosomal enzyme, aspartylglucosaminidase. The worldwide most common mutation causing the disease is the AGUFin, enriched in Finland; all the other known AGU mutations are family-specific.
What causes Fucosidosis?
Fucosidosis is caused by disruptions or changes (mutations) of the alpha-L-fucosidase (FUCA1) gene resulting in deficiency of the alpha-L-fucosidase enzyme.
Is Fucosidosis a leukodystrophy?
How Do You Get Fucosidosis? Like most leukodystrophies, this disorder is inherited through an autosomal recessive pattern. This means that both parents must be carriers of the FUCA1 gene mutation and pass them onto their child.
What is Sjogren Larsson Syndrome?
Sjögren-Larsson syndrome is a condition characterized by dry, scaly skin (ichthyosis); neurological problems; and eye problems. These symptoms are apparent by early childhood and usually do not worsen with age. Affected infants tend to be born prematurely.
What do you need to know about alpha mannosidosis?
From Genetics Home Reference. Learn more Alpha-mannosidosis is a rare inherited disorder that causes problems in many organs and tissues of the body. Affected individuals may have intellectual disability, distinctive facial features, and skeletal abnormalities.
What is alphaalpha-mannosidosis?
Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase.
How is alpha-mannosidosis diagnosed?
The diagnosis of alpha-mannosidosis can be established in a proband by identification of deficiency of lysosomal enzyme acid alpha-mannosidase (MAN2B1) in leukocytes or other nucleated cells. In affected individuals, alpha-mannosidase enzyme activity in peripheral blood leukocytes is 5%-10% of normal activity.
What is beta mannosidosis?
Mannosidosis, beta A lysosomal is a very rare lysosomal disorder only a few cases of which (one to two dozen) have been reported. Like alpha-mannosidosis, this disorder is characterized by the accumulation of polysaccharides (larger molecules composed of several linked sugar molecules) in the cell.