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.

How is fucosidosis treated?

The treatment of fucosidosis is directed toward the specific symptoms that are apparent in each individual. For example, antibiotic therapy may be administered to treat recurrent respiratory infections or fluid replacement may be considered to counter the effects of dehydration that may occur due to excessive sweating.

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.

How common is Tangier disease?

Tangier disease is a rare disorder with only approximately 100 cases diagnosed worldwide.

What is Kanzaki disease?

Schindler disease type II, also called Kanzaki disease, is a milder form of the disorder that usually appears in adulthood. Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss).

Is Hurler syndrome fatal?

If untreated, patients with Hurler syndrome experience progressive deterioration of the musculoskeletal, cardiorespiratory, and central nervous systems, leading to death before age 10 years[1].

What gene causes Hurler syndrome?

Hurler syndrome is caused by a variation in the IDUA gene, which contains the instructions for the production of a specific enzyme known as alpha-L-iduronidase. This specialized protein is normally found in the lysosomes of cells, where it helps to break down complex sugars called glycosaminoglycans (GAGs).

How is Tangier disease diagnosis?

Diagnosis of Tangier disease is achieved through clinical evaluation and can be confirmed through genetic testing involving the sequencing of the ABCA1 gene. HDL-C deficiency and an extremely low apolipoprotein A1 (ApoA1) level are typical diagnostic criteria.

What is Tangier disease caused by?

Mutations in the ABCA1 gene cause Tangier disease. This gene provides instructions for making a protein that releases cholesterol and phospholipids from cells. These substances are used to make HDL , which transports them to the liver .

What is Schindler’s Type 1?

Schindler disease type 1, also called the infantile type, is the most severe form. Babies with this condition appear healthy a birth, but by the age of 8 to 15 months they stop developing new skills and begin losing skills they had already acquired.

What are the symptoms of Schindler disease?

Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly).