H. Singh

TL;DR: The marked reduction in formic acid production from beta-methyl fatty acids in peroxisome-deficient skin fibroblasts suggests that peroxISomes are involved in the generation of C1 units, and postulate that formic Acid is formed from fatty acids by alpha-oxidation.

TL;DR: The data indicate that the genetic defect in rhizomelic chondrodysplasia punctata results in abnormalities in two apparently unrelated pathways (i.e., phytanic acid oxidation and ether lipid biosynthesis).

TL;DR: The brains of patients with inherited abnormalities in peroxisomal structure and function contain greatly increased proportions of a homologous series of unique polyenoic fatty acids with carbon chain lengths ranging from 26 to 38 according to evidence by chemical ionization and electron impact mass spectrometry.

TL;DR: The accumulation of very long chain fatty acids in plasma and skin fibroblasts was measured in at least four separate inherited disease states, and in Zellweger's syndrome, and to a lesser extent in infantile Refum's disease, there was an increase in 24:0, 26:0.

TL;DR: The data suggest that ULCFA with up to at least 32 carbon atoms are formed normally, as a part of the elongation process in most mammalian tissues, and that control of carbon chain elongation is a major function of peroxisomal disorders.