(X-ALD) affects 1 in 17,000 people worldwide.
Newborn screening for X-linked adrenoleukodystrophy
(X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method.
: ABCD1 de novo mutations and mosaicism.
The other entity with predominant periventricular pattern of involvement is X-linked adrenoleukodystrophy
, but the condition has posterior periventricular involvement and shows enhancing active demyelinating zone on contrast.
In the present review we focused on the pathophysiological and clinical implications ofglucocorticoid-related, mineralcorticoid-related, and catecholamine-related neurological manifestations and/or paediatric brain damage secondary to endogenous (i.e., Cushing syndrome, Addison's disease, congenital adrenal hyperplasia, X-linked adrenoleukodystrophy
, autoimmune polyglandular syndrome type 1, congenital adrenal hypoplasia, triple A syndrome, Smith-Lemli-Opitz syndrome, Kearns-Sayre syndrome, hyperaldosteronism, pseudohyperaldosteronism and pseudohypoaldosteronism, genetic and nongenetic tumours of the adrenal cortex or medulla) or exogenous (e.g., replacement or acute/chronic corticosteroid therapies) exposure to low or high levels of adrenal hormones.
A different team of researchers recently used GRAIL to isolate the gene for X-linked adrenoleukodystrophy
, the disease that is the subject of the film Lorenzo's Oil.
The company has exclusive worldwide rights to a portfolio of five therapeutic programs in clinical trials or preclinical studies, and is also developing novel and selective agonists of the thyroid beta receptor for GSD Ia, and X-linked adrenoleukodystrophy
, as well as two earlier-stage programs targeting metabolic diseases and anemia.
Furthermore, mucopolysaccharidosis type I (MPS-I) and X-linked adrenoleukodystrophy
(X-ALD) have recently been approved by the US Secretary of Health and Human Services to be added to the RUSP (February 2016).
(NASDAQ: VKTX) has released positive results from a 25-week proof-of-concept study of VK0214 in an in vivo model of X-linked adrenoleukodystrophy
(X-ALD), the company said.
Peroxisomal disorders can be categorized as (a) single peroxisomal enzyme deficiencies, including X-linked adrenoleukodystrophy
(X-ALD) and disorders attributable to defects in one of the peroxisomal (3-oxidation enzymes, such as acyl-CoA oxidase (AOX) deficiency and bifunctional protein (DBP) deficiency; and (b) disorders attributable to defects in peroxisome biogenesis.