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X-Linked ALD. Adrenoleukodystrophy (ALD) is a disease linked to the X chromosome. It is a result of fatty acid buildup caused by failure of peroxisomal fatty acid beta oxidation which results in the accumulation of very long chain fatty acids in tissues throughout the body.
Neurology. Leukodystrophies are a group of, usually, inherited disorders, characterized by degeneration of the white matter in the brain. [1] The word leukodystrophy comes from the Greek roots leuko, "white", dys, "abnormal" and troph, "growth". The leukodystrophies are caused by imperfect growth or development of the glial cells which produce ...
Zellweger syndrome is a rare congenital disorder characterized by the reduction or absence of functional peroxisomes in the cells of an individual. [1] It is one of a family of disorders called Zellweger spectrum disorders which are leukodystrophies. Zellweger syndrome is named after Hans Zellweger (1909–1990), a Swiss-American pediatrician ...
L1 syndrome. L1 syndrome is a group of mild to severe X-linked recessive disorders that share a common genetic basis. The spectrum of L1 syndrome disorders includes X-linked complicated corpus callosum dysgenesis, spastic paraplegia 1, MASA syndrome, and X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). [1][2] It is also ...
Peroxisomal disorder. Peroxisomal disorders represent a class of medical conditions caused by defects in peroxisome functions. [1] This may be due to defects in single enzymes [2] important for peroxisome function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis.
Canavan disease, or Canavan–Van Bogaert–Bertrand disease, is a rare and fatal autosomal recessive [ 1 ] degenerative disease that causes progressive damage to nerve cells and loss of white matter in the brain. [ 2 ] It is one of the most common degenerative cerebral diseases of infancy. [ 3 ] It is caused by a deficiency of the enzyme ...
The mortality rate of early infantile Krabbe disease is 90% before the age of two. Later onset of symptoms is associated with longer life expectancy, with older children generally surviving two to seven years after the initial diagnosis. [22] Krabbe disease occurs in about one in 100,000 births. [23]
Prognosis. fatal. Frequency. 1 in 40,000 births. Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids.