What LIPOID PROTEINOSIS means: Lipoid Proteinosis - rare autosomal recessive genodermatosis characterized by the deposition of an amorphous hyaline material in the skin, mucosa, and viscera. The classic manifestation is onset in infancy with a hoarse cry due to laryngeal infiltration. Skin and mucous membrane changes become apparent clinically, and the disease typically follows a slowly progressive, yet often benign, course.
- Definition Lesch-Nyhan Syndrome:
- Dictionary Syndrome - also known as Nyhan's syndrome, is a rare, inherited disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). LNS is an X-linked recessive lipoid proteinosis definition.
- Definition Leukodystrophy:
- Dictionary refers to progressive degeneration of the white matter of the brain due to imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fiber lipoid proteinosis explain.
- Definition Levine-Critchley Syndrome:
- Dictionary Levine-Critchley Syndrome - very rare inherited disorder mainly involving progressive muscle weakness and wasting, abnormal limb movement, progressive cognitive loss and red blood cell abnormalities lipoid proteinosis what is.
- Definition Lissencephaly:
- Dictionary rare brain formation disorder characterized by the lack of normal convolutions (folds) in the brain. It is caused by defective neuronal migration, the process in which nerve cells move from their lipoid proteinosis meaning.
