A Genetic Study of Two Families Having the Acute Intermittent Type of Porphyria

  1. GEORGE D. LUDWIG, M.D.; and
  2. I. SELIG EPSTEIN, M.D., F.A.C.P.
  1. Requests for reprints should be addressed to George D. Ludwig, M.D., University of Pennsylvania, Room 930 Maloney Bldg.
    3600 Spruce St., Philadelphia 4, Pa.

Excerpt

The prevalence of acute intermittent porphyria is greater than has been supposed, as a number of recent authors have emphasized (1-4), because so many cases with clinical expression of this disease are misdiagnosed, while almost all of the latent cases remain undetected. Recognition of the latent carriers of this genetic disease is of the utmost importance, since undiagnosed cases are in constant danger of taking, or of being given, barbiturates or other drugs that may precipitate or aggravate acute attacks and may result in permanent neurologic damage or even in death. Furthermore, when an acute attack develops, whether spontaneously or

Acknowledgment

The authors are indebted to Dana Wontorsky for her invaluable technical assistance.

Summario in Interlingua

Esseva effectuate studios genetic de duo familias con porphyria del acute typo intermittente. Mesurationes quantitative del excretion urinari de uroporphyrina e coproporphyrina e del duo precursores de porphyrina, acido delta-amino-levulinic e porphobilinogeno, esseva executate a parte le tests qualitative de Watson-Schwartz pro porphobilinogeno. In un del duo familias, dece de 13 consanguineos del probando esseva recognoscite como portatores latente del defecto metabolic. In le altere familia, duo fraternos del probando esseva afficite ex un total de dece personas examinate. Il pareva que le defecto esseva transmittite como un dominante character autosomal mendelian. Augmentos del excretion urinari de compositos indolic, specialmente de acido 5-hydroxyindolacetic, esseva constatate in multe membros de un del duo familias. Indoluria pote esser explicate per un bloco in le via ab tryptophano ad acido nicotinic, con le shuntage de tryptophano a vias alternative que resulta in le production de indoles. Un bloco in le via ab tryptophano ad acido nicotinic in casos de porphyria ha previemente essite describite per altere autores. Discrepantias inter le tests de Watson-Schwartz e le valores quantitative esseve trovate in certe casos. Es sublineate le desiderato, in studios genetic, de effectuar studios quantitative de porphyrina pro deteger latente portatores de porphyria.

Article and Author Information

  • Received for publication January 12, 1961.

  • From the Department of Medicine, Hospital of the University of Pennsylvania, School of Medicine, University of Pennsylvania, Philadelphia, Pa.

  • This work was supported in part by U. S. Public Health Service Grant A-2872 for Studies of Porphyrin Metabolism.

  • cine, University of Pennsylvania, Philadelphia, Pa.

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  1. Ann Intern Med July 1, 1961 vol. 55 no. 1 81-93
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