Peroxisomal disease Peroxisome biogenesis disorders (PBDs) Zellweger spectrum disorders Zellweger syndrome (ZS) Neonatal
adrenoleukodystrophy (NALD) Infantile Refsum disease (IRD) Rhizomelic chondrodysplasia punctata (RCDP) Single-enzyme deficiencies
Adrenoleukodystrophy (ALD) Acyl-CoA oxidase deficiency D-Bifunctional protein deficiency 3-Ketoacyl-CoA thiolase deficiency Refsum disease (phytanyl-CoA hydroxylase deficiency), [alpha]-Methylacyl-CoA racemase deficiency Hyperoxaluria type I (alanine glyoxylate aminotransferase deficiency) Mevalonate kinase deficiency Glutaric aciduria 3 (glutaryl-CoA oxidase deficiency) Acatalasemia Table 3.
Unless the target analyte for X-linked
adrenoleukodystrophy can be included in the current amino acid/acylcarnitine test menu, or a less expensive screening test is developed, programs may still need to invest in additional MS/MS equipment if they wish to screen for this condition.
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.
The report provides comprehensive information on the therapeutics under development for
Adrenoleukodystrophy (Adrenomyeloneuropathy/ Schilder-Addison Complex), complete with analysis by stage of development, drug target, mechanism of action (MoA), route of administration (RoA) and molecule type.
Professor Aurora Pujol, a research professor for the Catalan Government Research Body ICREA, working as Director of the Neurometabolic Diseases Laboratory at IDIBELL, Barcelona, Spain, investigated the role of mitochondria, the power plant of the cell, in
adrenoleukodystrophy, a disease caused by the inactivation of the ABCD1 transporter of fatty acids in peroxisomes.
Adrenoleukodystrophy affects the brain and causes deterioration to an insulating membrane which protects nerve cells.
Not included in this series are those cases where encephalopathy may be secondary to failure of other organs such as hepatorenal failure in tyrosinaemia type 1 and galactosaemia, adrenal failure in
adrenoleukodystrophy (X-ALD) or hypoglycaemia in glycogen storage disease type 1.
An example of a few entities in this latter category include
adrenoleukodystrophy, metachromatic leukodystrophy, Canavan's disease, Alexander's disease, Krabbe's disease, and sudanophilic leukodystrophy.
Immunodeficiency; 16 Others; 18 SAA; 9 FAA; 19 Hb disorders; 96 SAA, Severe aplastic anemia; FAA, Fanconi's aplastic anemia; others,
adrenoleukodystrophy (n:6), hemophagocytic lymphistiocytosis (n:3), osteopetrosis (n:2), Hurler disease (n:2).
The brothers, from Eyres Monsell in Leicester, made headlines in 2006 when it was revealed they shared the fatal brain disorder,
adrenoleukodystrophy, which only attacks boys.
Much of this progress has been pushed forward by the anxious parents of children suffering from rare genetic disorders such as the brain-destroying
adrenoleukodystrophy best known from the movie Lorenzo's Oil.
Adrenoleukodystrophy, an X-linked acquired neurodegenerative disease characterised by generalized hyperpigmentation with a slowly progressive involvement of the brain and adrenals.
