Abstract
Summary: Biochemical studies have been performed in muscle, liver, leukocytes, and fibroblasts from patients suffering from the Zellweger syndrome. Oxidation rates of [1-14C]pyruvate, [U-14C]malate, and [1-14C]2-oxoglutarate were strongly reduced in skeletal muscle homogenate. Oxygen consumption in isolated skeletal muscle mitochondria could only be stimulated by ADP in the presence of ascorbate and N,N,N1,N1-tetramethyl-p-phenylenediamine. Cytochrome contents in heart muscle and liver mitochondria were normal. A very low activity of succinate-ubiquinone oxidoreductase was found in liver homogenate of two patients. From the effect of 2-thenoyltrifluoroacetone on the succinate-phenazine methosulphate oxidoreductase activity, a nearly competitive inhibition with respect to phenazine methosulphate was demonstrated in contrast with a non-competitive inhibition in controls. Normal oxidation rate of [1-14C]pyruvate and [2-14C]pyruvate was found in leucocytes and fibroblasts. Lactate and pyruvate levels were normal in serum and cerebrospinal fluid and β-hydroxybutyrate and acetoacetate levels were normal in blood. The ratios lactate/pyruvate and β-hydroxybutyrate/acetoacetate were normal as well. These findings point to a defect in the electron transport chain at the succinate-ubiquinone oxidoreductase level. This defect might be related to the absence of peroxisomes in the cells of Zellweger patients.
Similar content being viewed by others
Article PDF
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Trijbels, J., Berden, J., Monnens, L. et al. Biochemical Studies in the Liver and Muscle of Patients with Zellweger Syndrome. Pediatr Res 17, 514–517 (1983). https://doi.org/10.1203/00006450-198306000-00018
Issue Date:
DOI: https://doi.org/10.1203/00006450-198306000-00018
This article is cited by
-
Loss of functional peroxisomes leads to increased mitochondrial biogenesis and reduced autophagy that preserve mitochondrial function
Cellular and Molecular Life Sciences (2023)
-
Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: Evidence for the involvement of ETF and the respiratory chain in phytanic acid α‐oxidation
Journal of Inherited Metabolic Disease (1994)
-
Lactic acidosis and mitochondrial dysfunction in two children with peroxisomal disorders
Journal of Inherited Metabolic Disease (1993)
-
Problems with the biochemical diagnosis in mitochondrial (encephalo-)myopathies
European Journal of Pediatrics (1993)
-
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review
Journal of Inherited Metabolic Disease (1991)