Rhizomelic Chondrodysplasia Punctata (RCDP): Difference between revisions
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== Definition/Description == | == Definition/Description == | ||
Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder found in infants from genetic origin. It is caused by deficient activity of peroxisomal enzymes. In patients with RCDP, their bodies cannot synthesize plasmalogens due to a deficiency of acyl-CoA. Another biochemical characteristic of RCDP is high levels of phytanic acid in the body. The severity of the decreased plasmalogens corresponds with the severity of the disease and abnormalities seen on MRI of the brain. Also, the patients with the milder phenotype have significantly higher levels of plasmalogens in erythrocytes. <br>There are 3 genetic subtypes. Type 1 consists of individuals with homozygous or compound heterozygous mutations in the PEX7 gene. This is the largest group. Type 2 is secondary to mutations in the GNPAT gene. Type 3 forms by mutations in the AGPS gene. Life expectancy is considerably reduced.<br> | |||
== Prevalence == | == Prevalence == | ||
Revision as of 17:52, 10 April 2016
Original Editors - Students from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Top Contributors - Brittany Schroader, Abby Lenhart, Elaine Lonnemann, WikiSysop and Kim Jackson
Definition/Description[edit | edit source]
Rhizomelic chondrodysplasia punctata (RCDP) is a rare disorder found in infants from genetic origin. It is caused by deficient activity of peroxisomal enzymes. In patients with RCDP, their bodies cannot synthesize plasmalogens due to a deficiency of acyl-CoA. Another biochemical characteristic of RCDP is high levels of phytanic acid in the body. The severity of the decreased plasmalogens corresponds with the severity of the disease and abnormalities seen on MRI of the brain. Also, the patients with the milder phenotype have significantly higher levels of plasmalogens in erythrocytes.
There are 3 genetic subtypes. Type 1 consists of individuals with homozygous or compound heterozygous mutations in the PEX7 gene. This is the largest group. Type 2 is secondary to mutations in the GNPAT gene. Type 3 forms by mutations in the AGPS gene. Life expectancy is considerably reduced.
Prevalence[edit | edit source]
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