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Familial Hypoketotic Hypoglycaemia Associated with Peripheral Neuropathy, Pigmentary Retinopathy and C6–C14 Hydroxydicarboxylic Aciduria. A New Defect in Fatty Acid Oxidation?

  • B. T. Poll-The
  • J. P. Bonnefont
  • H. Ogier
  • C. Charpentier
  • A. Pelet
  • J. M. Le Fur
  • C. Jakobs
  • R. M. Kok
  • M. Duran
  • P. Divry
  • J. Scotto
  • J. M. Saudubray

Abstract

Hypoketotic hypoglycaemia is a frequent feature of defective mitochondrial β-oxidation (Gregersen, 1985), whereas pigmentary retinopathy and peripheral neuropathy are frequent symptoms in peroxisomal disorders (Schutgens et al., 1986). Two siblings presented a combination of these features associated with hydroxydicarboxylic aciduria, pointing to a defect of the β-oxidation at the level of 3-hydroxyacyl-CoA dehydrogenase or 3-ketothiolase. In addition, accumulation of di- and trihydroxycoprostanoic acids in plasma and abnormal morphology of hepatic peroxisomes suggest a combination of impaired mitochondrial and peroxisomal β-oxidation.

Keywords

Phytanic Acid Sebacic Acid Pipecolic Acid Palmitoyl Carnitine Peroxisomal Disorder 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Gregersen, N. The acyl-CoA dehydrogenation deficiences. Scand. J. Clin. Lab. Invest. 45 Suppl. 174 (1985)Google Scholar
  2. Kase, F., Björkhem, I. and Pedersen, J. I. Formation of cholic acid from 3α,7α,12α-trihydroxy-5β-cholestanoic acid by rat liver peroxisomes. J. Lipid Res. 24 (1983) 1560–1567PubMedGoogle Scholar
  3. Riudor, E., Ribes, A., Boronat, M., Sabado, C., Dominguez, C. and Ballabriga, A. A new case of C6-C14 dicarboxylic aciduria with favourable evolution. J. Inher. Metab. Dis. 9 Suppl. 2 (1986) 297–299CrossRefGoogle Scholar
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Copyright information

© Springer Science+Business Media Dordrecht 1988

Authors and Affiliations

  • B. T. Poll-The
    • 1
  • J. P. Bonnefont
    • 1
  • H. Ogier
    • 1
  • C. Charpentier
    • 1
  • A. Pelet
    • 1
  • J. M. Le Fur
    • 2
  • C. Jakobs
    • 3
  • R. M. Kok
    • 3
  • M. Duran
    • 4
  • P. Divry
    • 5
  • J. Scotto
    • 6
  • J. M. Saudubray
    • 1
  1. 1.Hôpital Enfants-Malades, Clinique Génétique MédicaleParisFrance
  2. 2.CHU Augustin-MorvanBrestFrance
  3. 3.Free University of AmsterdamAmsterdamThe Netherlands
  4. 4.University Children’s Hospital “Het Wilhelmina Kinderziekenhuis”UtrechtThe Netherlands
  5. 5.Hôpital DebrousseLyonFrance
  6. 6.Hôpital Bicêtre et INSERM U 56ParisFrance

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