What CERAMIDASE DEFICIENCY means: Ceramidase Deficiency - Farber's disease 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. The liver, heart, and kidneys may also be affected. 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 arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), chronic shortening of muscles or tendons around joints, and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged.
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- Dictionary Disorders - Repetitive motion disorders (RMDs) are a family of muscular conditions that result from repeated motions performed in the course of normal work or daily activities. RMDs include carpal ceramidase deficiency definition.
- Definition Cerebro-Oculo-Facio-Skeletal Syndrome:
- Dictionary Skeletal Syndrome - (COFS) is a pediatric, genetic, degenerative disorder that involves the brain and the spinal cord. It is characterized by craniofacial and skeletal abnormalities, severely ceramidase deficiency explain.
- Definition Cerebral Hypoxia:
- Dictionary refers to a condition in which there is a decrease of oxygen supply to the brain even though there is adequate blood flow. Drowning, strangling, choking, suffocation, cardiac arrest, head trauma ceramidase deficiency what is.
- Definition Cushing'S Syndrome:
- Dictionary Syndrome - also called hypercortisolism, is a rare endocrine disorder caused by chronic exposure of the body's tissues to excess levels of cortisol - a hormone naturally produced by the adrenal ceramidase deficiency meaning.