U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Reduced circulating acyl-CoA oxidase activity

MedGen UID:
1054168
Concept ID:
CN376730
Finding
HPO: HP:6000217

Definition

The activity of acyl-CoA oxidase activity in the blood circulation is below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced circulating acyl-CoA oxidase activity

Conditions with this feature

Acyl-CoA oxidase deficiency
MedGen UID:
376636
Concept ID:
C1849678
Disease or Syndrome
Peroxisomal acyl-CoA oxidase deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also D-bifunctional protein deficiency (261515), caused by mutation in the HSD17B4 gene (601860) on chromosome 5q2. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (see 601539) (Watkins et al., 1995).

Recent clinical studies

Therapy

Huang TH, Peng G, Kota BP, Li GQ, Yamahara J, Roufogalis BD, Li Y
Br J Pharmacol 2005 Jul;145(6):767-74. doi: 10.1038/sj.bjp.0706245. PMID: 15880139Free PMC Article

Prognosis

Ceci R, Sabatini S, Duranti G, Savini I, Avigliano L, Rossi A
Eur J Nutr 2007 Sep;46(6):364-8. Epub 2007 Jun 14 doi: 10.1007/s00394-007-0664-9. PMID: 17571209

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...