lignoceric/atrophy

Clinical and laboratory findings of Zellweger syndrome (ZS) patients diagnosed at King Faisal Specialist Hospital and Research Center (KFSH & RC), Riyadh, Saudi Arabia over a period of 10 years are presented in this report. Eleven patients (nine females and two males) from 2 to 4 months old were

We diagnosed a unique peroxisomal disorder in a 32-year-old man with profound mental retardation, mild facial dysmorphism, retinal pigmentary degeneration, seizures, and sensorineural deafness. Although plasma very-long-chain fatty acid profile suggested X-linked adrenoleukodystrophy, marked

Fatp4 exhibits acyl-CoA synthetase activity and is thereby able to catalyze the activation of fatty acids for further metabolism. However, its actual function in most tissues remains unresolved, and its role in cellular fatty acid uptake is still controversial. To characterize Fatp4 functions in

The oil obtained from baru (Dipteryx alata Vog.) almonds exhibits high energy value and is reported in popular medicine for the treatment of rheumatic diseases and reproductive disturbances. Although baru oil is used in domestic cuisine, the chemical characterization of this oil and its effects on

Phytanic acid (PA) accumulates in patients with adult Refsum disease (ARD) and with peroxisomal disorders. In three related patients with ARD, PA levels were moderately increased in plasma, whereas phytanic oxidation was severely deficient in the fibroblasts. Two of these patients had a significant

Adrenoleukodystrophy (ALD) and adrenomyeloneuropathy are inherited disorders in which long-chain, saturated fatty acids (LCFA) accumulate in various tissues. A mechanism by which LCFA cause the endocrine and neurological dysfunction characteristic of these diseases is proposed based on in vitro