Objective To report a case of peroxisomal acyl-CoA oxidase (ACOX1) deficiency, which was caused by an unreported mutation of ACOX1 gene, and review its clinical characteristics. Methods and Results The male child patient suffered from neonatal hypotonia, d...
Watkins PA, McGuinness MC, Raymond GV, Hicks BA, Sisk JM, Moser AB, Moser HW (1995b) Distinction between peroxisomal bifunctional enzyme and acyl-CoA oxidase de- ficiencies. Ann Neurol 38:472-477Watkins PA, McGuinness MC, Raymond GV, et al. Distinction between peroxisomal bifunctional enzyme...
The results indicate that two patients with a more severe clinical course were suffering from bifunctional enzyme deficiency and that the other two infants, who were siblings and had a less severe clinical presentation, were the first patients with acyl-CoA oxidase deficiency with detectable enzyme ...
The concentration of pristanic acid was measured in plasma from a patient with an isolated peroxisomal very long chain fatty acid (VLCFA) acyl-CoA oxidase deficiency, a defect in peroxisomal β -oxidation resulting in accumulation of VLCFA in plasma and tissues. Although peroxisomes are believed ...
neonatal adrenoleukodystrophy; IRD, infantile Refsum disease; AOXD, acyl-CoA oxidase 1 deficiency; DBPD, D-bifunctional protein deficiency; RCDP, rhizomelic chondrodysplasia punctata; X-ALD, X-linked adrenoleukodystrophy; RD, Refsum disease; AMACRD, 2-methylacyl-CoA racemase deficiency; N, normal;...
Humans also have a third acyl-CoA oxidase gene that is a homolog of the rat ACOX3, but this gene appears to be non-functional [25]. S. cerevisiae has only one peroxisomal acyl-CoA oxidase, Pox1p/Fox1p, and therefore pox1Δ mutant cells are unable to grow on oleic acid as the ...
For postnuclear involvement of an oxidase. In the cynomolgus monkey, this supernatants, the reported values are the mean of triplicate membrane-associated activity is peroxisomal and has been exten- determinations; the other assays were performed in duplicate. sively purified (Ref. 16; Mihalik S,...
This is the case for D-bifunctional protein deficiency, peroxisomal acyl-CoA oxidase 1 deficiency and the RCDP types 2 and 3. The most common single peroxisomal enzyme disorder is the X-linked adrenoleukodystrophy (ALD)/adrenomyeloneuropathy (AMN) complex that consists of a spectrum of phenotypes...
Poll-Thé BT, Roels F, Ogier H, Scotto J, Vamecq J, Schutgens RBH, Van Roermund CWT, Van Wijland MJA, Schram AW, Tager JM, Saudubray JM (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am...
A novel case of ACOX2 deficiency leads to recognition of a third human peroxisomal acyl-CoA oxidase. Biochim Biophys Acta. 2018;1864:952–958. Article CAS Google Scholar Ferdinandusse S, van Grunsven EG, Oostheim W, et al. Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency:...