Article
Two siblings with phenotypes mimicking peroxisomal disorders but with discordant biochemical findings.
Clinical pediatrics - 1 Aug 1990
Pietrzyk J J, Turowska-Heydel D, Klimek M, Kaczmarski F, Kaluza J
Abstract excerpt
The authors present a report on two sibling with a nearly identical phenotype mimicking peroxisomal disorder but with totally discordant biochemical findings. In an attempt to confirm the diagnosis of a peroxisomal disorder, plasma levels of very long chain fatty acids (VLCFA) and phytanic acid w...
Topics
- Diagnosis, Differential
- Fatty Acids
- Female
- Fibroblasts
- Humans
- Infant
- Male
- Metabolism, Inborn Errors
- Microbodies
- Phenotype
- Phytanic Acid
- Zellweger Syndrome