Profiles of very-long-chain fatty acids in plasma, fibroblasts, and blood cells in Zellweger syndrome, X-linked adrenoleukodystrophy, and rhizomelic chondrodysplasia punctata
Schutgens, R.B.; Bouman, I.W.; Nijenhuis, A.A.; Wanders, R.J.; Frumau, M.E.
Clinical Chemistry 39(8): 1632-1637
1993
ISSN/ISBN: 0009-9147 PMID: 8353949 Document Number: 407117
Profiles of saturated very-long-chain ( gt C-22) fatty acids were studied in plasma, fibroblasts, erythrocytes, platelets, and leukocytes of patients affected by peroxisomal disorders such as Zellweger syndrome, X-linked adrenoleukodystrophy (X-ALD), and classic rhizomelic chondrodysplasia punctata (RCDP) and in controls. In Zellweger patients, the concentration of hexacosanoic acid (C-26:0) and the C-26:0/C-22:0 ratio are greatly increased in plasma and fibroblasts. However, the plasma concentration of docosanoic acid (C-22:0) is greatly decreased. Also in platelets, leukocytes, and to a lesser extent erythrocytes, the C-26:0 concentrations and both the C-26:0/C-22:0 and C-24:0/C-22:0 ratios are greatly increased. The C-24:0/C-22:0 ratio is significantly increased in plasma, platelets, and leukocytes, but not in erythrocytes. In X-ALD, the C-26:0 concentration and the C-26:0/C-22:0 and C-24:0/C-22:0 ratios are significantly increased in plasma, fibroblasts, platelets, and leukocytes, but the erythrocytes show substantial overlap in the 5-90% ranges between controls and patients. In RCDP, slightly increased C-26:0 and C-26:0/C-22:0 ratios are found in erythrocytes, platelets, and leukocytes, but not in plasma and fibroblasts. We conclude that plasma and fibroblasts are the specimens of choice for biochemical diagnosis of Zellweger syndrome and X-ALD, respectively. The slight increase in C-26:0 in blood cells of RCDP patients suggests a decreased flux of very-long-chain fatty acids through the peroxisomal beta-oxidation pathway in liver in this genetic disorder.