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Rhizomelic Chondrodysplasia Punctata

An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)
Also Known As:
Chondrodysplasia Punctata, Rhizomelic; Chondrodysplasia Punctata, Rhizomelic Form; Chondrodysplasia Punctatas, Rhizomelic; Punctata, Rhizomelic Chondrodysplasia; Punctatas, Rhizomelic Chondrodysplasia; Rhizomelic Chondrodysplasia Punctatas
Networked: 112 relevant articles (0 outcomes, 3 trials/studies)

Disease Context: Research Results

Related Diseases

1. Zellweger Syndrome (Zellweger's Syndrome)
2. Peroxisomal Disorders (Peroxisomal Disorder)
3. Refsum Disease (Refsum's Disease)
4. Adrenoleukodystrophy (Adrenoleukodystrophy, X-Linked)
5. Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)

Experts

1. Waterham, Hans R: 6 articles (01/2021 - 04/2012)
2. Braverman, Nancy: 5 articles (01/2022 - 07/2010)
3. Brites, Pedro: 4 articles (10/2021 - 09/2012)
4. Wanders, Ronald J A: 4 articles (08/2016 - 04/2002)
5. Fujiki, Yukio: 4 articles (07/2014 - 03/2002)
6. Ghaedi, Kamran: 4 articles (07/2014 - 03/2002)
7. Engelen, Marc: 3 articles (01/2021 - 02/2012)
8. Poll-The, Bwee Tien: 3 articles (01/2021 - 02/2012)
9. Malheiro, Ana R: 3 articles (01/2019 - 09/2012)
10. Ferdinandusse, Sacha: 3 articles (08/2016 - 04/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rhizomelic Chondrodysplasia Punctata:
1. PlasmalogensIBA
2. Proteins (Proteins, Gene)FDA Link
3. Phytanic AcidIBA
4. Peroxisomal Targeting Signal 2 ReceptorIBA
5. CholesterolIBA
6. EnzymesIBA
7. LipidsIBA
8. Ether (Diethyl Ether)IBA
9. Fatty Acids (Saturated Fatty Acids)IBA
10. pristanic acidIBA
05/01/1996 - "In fibroblasts from a child with rhizomelic chondrodysplasia punctata the rate of degradation of U-3H- and 1-14C-labelled phytanic acid was markedly reduced whereas the rate of degradation of U-3H-labelled pristanic acid was normal. "
09/01/1993 - "In the blood spot from a patient with rhizomelic chondrodysplasia punctata, the concentration of phytanic acid was increased, whereas pristanic acid was within the control range, resulting in a low pristanic acid/phytanic acid ratio. "
10/01/1998 - "Also in rhizomelic chondrodysplasia punctata, phytanic acid accumulates, owing to a deficiency in the peroxisomal import of proteins with a peroxisomal targeting sequence type 2. In patients affected with generalized peroxisomal disorders, degradation of both phytanic acid and pristanic acid is impaired owing to absence of functional peroxisomes. "
10/24/1997 - "In cells from patients with a defective alpha-oxidation (Refsum disease, rhizomelic chondrodysplasia punctata and generalized peroxisomal disorders) 2-hydroxyphytanic acid and pristanic acid were low or not detectable, showing that in these disorders the hydroxylation of phytanoyl-CoA to 2-hydroxyphytanoyl-CoA is deficient. "
10/01/1992 - "Four different groups of diseases were characterized with a defective phytanic acid alpha-oxidation and/or pristanic acid beta-oxidation: 1) Refsum's disease, with a defect at phytanic acid alpha-hydroxylation; 2) rhizomelic chondrodysplasia punctata, with a defect at 2-hydroxyphytanic acid decarboxylation; 3) generalized peroxisomal disorders, with defects at 2-hydroxyphytanic acid decarboxylation and at pristanic acid beta-oxidation; 4) single peroxisomal beta-oxidation enzyme deficiencies, with a defect at pristanic acid beta-oxidation, resulting in an impaired phytanic acid alpha-oxidation by inhibition. "

Therapies and Procedures

1. Oral Administration