Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome

Sidney Goldfischer, Cyril L. Moore, Anne B. Johnson, Alfred J. Spiro, Marius P. Valsamis, Henry K. Wisniewski, Robert H. Ritch, William T. Norton, Isabelle Rapin, Lawrence M. Gartner

Research output: Contribution to journalArticlepeer-review

621 Scopus citations


The cerebro-hepato-renal syndrome is a rare familial malady with cerebral, renal, and skeletal abnormalities, severe hypotonia, cirrhosis, iron and lipid storage, and death within 6 months. Correlated electron microscopic, histochemical, and biochemical studies demonstrate defects in two oxidative organelles. Peroxisomes cannot be found in hepatocytes and renal proximal tubules. In hepatocytes and cortical astrocytes, mitochondria are distorted in their appearance and glycogen stores are increased. Oxygen consumption of brain and liver mitochondrial preparations with succinate and with substrates reducing nicotinamide adenine dinucleotide is markedly diminished, but the consumption is normal with ascorbate and tetramethylphenylenediamine, which suggests a defect in electron transport prior to the cytochromes. Histochemical studies of mitochondrial oxidation point to a defect between the succinate dehydrogenase flavoprotein and coenzyme Q, possibly in the region of nonheme iron protein.

Original languageEnglish (US)
Pages (from-to)62-64
Number of pages3
Issue number4107
StatePublished - 1973
Externally publishedYes

ASJC Scopus subject areas

  • General


Dive into the research topics of 'Peroxieomal and mitochondrial defects in the cerebro-hepato-renal syndrome'. Together they form a unique fingerprint.

Cite this