Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

A Rötig; V Cormier; S Blanche; J P Bonnefont; F Ledeist; N Romero; J Schmitz; P Rustin; A Fischer; J M Saudubray

doi:10.1172/JCI114881

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Rötig, A. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Cormier, V. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Blanche, S. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Bonnefont, J. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Ledeist, F. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Romero, N. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Schmitz, J. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Rustin, P. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Fischer, A. in: JCI | PubMed | Google Scholar

Unité de Recherces sur les Handicaps Génétiques de l'Enfant, Institut National de la Santé et da la Recherce Médicale (INSERM) U-12 Paris, France.

Find articles by Saudubray, J. in: JCI | PubMed | Google Scholar

Published in Volume 86, Issue 5 on November 1, 1990
J Clin Invest. 1990;86(5):1601–1608. https://doi.org/10.1172/JCI114881.
© 1990 The American Society for Clinical Investigation

Published November 1, 1990 - Version history

Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and abnormal oxidative phosphorylation in lymphocytes led us to postulate that Pearson's syndrome belongs to the group of mitochondrial cytopathies. Since rearrangements of the mitochondrial genome between direct DNA repeats were consistently found in all tissues tested, our results show that this disease is in fact a multisystem mitochondrial disorder, as suggested by the clinical course of the patients. Based on these observations, we would suggest giving consideration to the hypothesis of a defect of oxidative phosphorylation in elucidating the origin of other syndromes, especially those associated with an abnormal oxidoreduction status in plasma.

Images.

Version 1 (November 1, 1990): No description

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

A Rötig, V Cormier, S Blanche, J P Bonnefont, F Ledeist, N Romero, J Schmitz, P Rustin, A Fischer, and J M Saudubray

Article tools

Metrics

Go to

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy.

A Rötig, V Cormier, S Blanche, J P Bonnefont, F Ledeist, N Romero, J Schmitz, P Rustin, A Fischer, and J M Saudubray

Article tools

Metrics

Go to

Sign up for email alerts