INFORMATION ON CERAMIDASE DEFICIENCY

Ceramidase Deficiency is a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids build up to harmful levels in the joints, tissues, and central nervous system. It can also affect liver, heart, and kidneys may also be affected. Children born to parents affected have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

SYNONYMS OF CERAMIDASE DEFICIENCY

Synonyms of Ceramidase Deficiency are:

1. Acid Ceramidase Deficiency.
2. Farber's Lipogranulomatosis.
3. Ceramidase deficiency.

CAUSES OF CERAMIDASE DEFICIENCY

Causes of Ceramidase Deficiency are unknown but it is inherited disorder. The gene is inherited by one or both of the parents. Children born to parents affected have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females.

SYMPTOMS OF CERAMIDASE DEFICIENCY

Symptoms are typically seen in the first few weeks of life and include impaired motor and mental ability and difficulty with swallowing. Other symptoms may include:

1. Arthritis.
2. Swollen lymph nodes and joints.
3. Hoarseness.
4. Nodules under the skin.
5. Chronic shortening of muscles.
6. Tendons around joints.
7. Vomiting.

DIGNOSIS OF CERAMIDASE DEFICIENCY

Test under diagnosis are:

1. X-Rays.
2. Blood Test.
3. Electroencephalogram.
4. Magnetic Resonance Imaging.
5. Computerized tomography scans.

TREATMENT OF CERAMIDASE DEFICIENCY

Treatment of Ceramidase Deficiency is currently unknown .Some of the medicine can be taken as pain relief such as Corticosteroids. Nodes can be treated with bone marrow transplants, in certain instances, or may be surgically reduced or removed.