Peroxisomal ACYL-COA oxidase deficiency

Also Known As:

Pseudoneonatal adrenoleukodystrophy; Straight-chain ACYL-COA oxidase deficiency

Networked: 8 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Nervous System Diseases: 14178
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
Nutritional and Metabolic Diseases: 15
- Metabolic Diseases: 10142
Endocrine System Diseases: 968
- Adrenal Gland Diseases: 24
  - Adrenal Insufficiency: 3937
    - Adrenoleukodystrophy: 1188
      - Peroxisomal ACYL-COA oxidase deficiency: 8
Enzymes and Coenzymes: 1
- Enzymes: 152586
  - Oxidoreductases: 13671
    - Oxidoreductases Acting on CH-CH Group Donors
      - Acyl-CoA Dehydrogenases: 26
        Acyl-CoA Oxidase: 154
        Peroxisomal ACYL-COA oxidase deficiency: 8
Amino Acids, Peptides, and Proteins: 1
- Proteins: 484843
  - Flavoproteins: 234
    - Acyl-CoA Oxidase: 154
      - Peroxisomal ACYL-COA oxidase deficiency: 8

Related Diseases

1.	Acatalasia (Acatalasemia)
2.	Neurodegenerative Diseases (Neurodegenerative Disease)
3.	Refsum Disease (Refsum's Disease)
4.	Primary Hyperoxaluria (Oxaluria, Primary)
5.	Demyelinating Diseases (Demyelinating Disease)

Experts

1.	Cherkaoui-Malki, Mustapha: 2 articles (06/2012 - 08/2007)
2.	Andreoletti, P: 1 article (06/2012)
3.	El Hajj, H I: 1 article (06/2012)
4.	Kersten, S: 1 article (06/2012)
5.	Lizard, G: 1 article (06/2012)
6.	Mandard, S: 1 article (06/2012)
7.	Ragot, K: 1 article (06/2012)
8.	Reddy, J K: 1 article (06/2012)
9.	Vluggens, A: 1 article (06/2012)
10.	Wanders, R J A: 1 article (06/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Peroxisomal ACYL-COA oxidase deficiency:

1.	EnzymesIBA 07/01/1988 - "While the case resembles the recently reported entity of peroxisomal acyl-CoA oxidase deficiency, assignment to this category was excluded by immunoblot studies on postmortem liver, which revealed normal amounts of this enzyme. " 10/25/2001 - "X-adrenoleukodystrophy, pseudoneonatal adrenoleukodystrophy, trifunctional enzyme deficiency, Refsum disease, primary hyperoxaluria, acatalasemia result from the deficiency of a single enzyme. " 01/01/1994 - "Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis." 08/24/2007 - "Human acyl-CoA oxidase 1 (ACOX1) is a rate-limiting enzyme in peroxisomal fatty acids beta-oxidation and its deficiency is associated with a lethal, autosomal recessive disease, called pseudoneonatal-adrenoleukodystrophy. "
2.	Acyl-CoA OxidaseIBA 06/01/2012 - "The inflammatory response in acyl-CoA oxidase 1 deficiency (pseudoneonatal adrenoleukodystrophy)." 12/27/1996 - "Targeted disruption of the peroxisomal fatty acyl-CoA oxidase gene: generation of a mouse model of pseudoneonatal adrenoleukodystrophy." 06/01/2012 - "Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and inflammatory demyelination. " 08/24/2007 - "Human acyl-CoA oxidase 1 (ACOX1) is a rate-limiting enzyme in peroxisomal fatty acids beta-oxidation and its deficiency is associated with a lethal, autosomal recessive disease, called pseudoneonatal-adrenoleukodystrophy. "
3.	Fatty Acids (Saturated Fatty Acids)IBA 06/01/2012 - "Among several peroxisomal neurodegenerative disorders, the pseudoneonatal adrenoleukodystrophy (P-NALD) is characterized by the acyl-coenzyme A oxidase 1 (ACOX1) deficiency, which leads to the accumulation of very-long-chain fatty acids (VLCFA) and inflammatory demyelination. " 08/24/2007 - "Human acyl-CoA oxidase 1 (ACOX1) is a rate-limiting enzyme in peroxisomal fatty acids beta-oxidation and its deficiency is associated with a lethal, autosomal recessive disease, called pseudoneonatal-adrenoleukodystrophy. "
4.	Proteins (Proteins, Gene)FDA Link 01/01/1994 - "Novel subtype of peroxisomal acyl-CoA oxidase deficiency and bifunctional enzyme deficiency with detectable enzyme protein: identification by means of complementation analysis."
5.	peroxisomal acyl-CoA oxidaseIBA 08/01/1994 - "Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy."
6.	pristanoyl-CoA oxidaseIBA 01/01/1991 - "Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase."
7.	pristanic acidIBA 01/01/1991 - "Pristanic acid does not accumulate in peroxisomal acyl-CoA oxidase deficiency: evidence for a distinct peroxisomal pristanyl-CoA oxidase."