Klinische Wochenschrift

, Volume 57, Issue 20, pp 1123–1127 | Cite as

New type of hepatic porphyria with porphobilinogen synthase defect and intermittent acute clinical manifestation

  • M. Doss
  • R. von Tiepermann
  • J. Schneider
  • H. Schmid
Originalien

Summary

In two young patients with acute hepatic porphyria syndrome and persisting paralyses, which increased in intensity during intermittent occurring crisis, the activity of erythrocyte porphobilinogen synthase (δ-aminolevulinic acid dehydratase) was found to be considerably diminished, below 1% of the value of normal control persons. In contrast, the activity of uroporphyrinogen synthase was normal. Both patients have been excreting high quantities of δ-aminolevulinic acid and porphyrins in urine for years. Lead intoxication has definitively been excluded. Since the relatives also show lower activities in porphobilinogen synthase, the disease of these two patients is probably a new enzymatic type of inherited acute hepatic porphyria, the excretion profile of which is qualitatively completely different from those of the known acute porphyrias. The discovery of this porphyria confirms the theory of overlapping transition in the biochemical and clinical symptoms and analogies among acute hepatic porphyrias.

Key words

Hepatic porphyria Porphobilinogen synthase deficiency Acute abdominal and neurologic manifestations Persistent motoric polyneuropathy Persistent δ-aminolevulinic acid and porphyrin excretion 

Ein neuer Typ einer hepatischen Porphyrie mit Porphobilinogen-Synthase-Defekt und intermittierender akuter klinischer Manifestation

Zusammenfassung

Bei zwei jungen Patienten mit einem akuten hepatischen Porphyriesyndrom und persistierenden Lähmungen, die sich bei intermittierend auftretenden Krisen verstärkten, wurde eine erheblich verminderte Aktivität der Porphobilinogen-Synthase (δ-Aminolävulinsäure-Dehydratase) in den Erythrozyten festgestellt, die unter 1% derjenigen gesunder Kontrollpersonen lag. Die Uroporphyrinogen-Synthase-Aktivität war hingegen normal. Die beiden Patienten scheiden seit Jahren hohe Mengen an δ-Aminolävulinsäure und Porphyrinen im Urin aus. Eine Bleiintoxikation wurde sicher ausgeschlossen. Da auch die Familienangehörigen erniedrigte Porphobilinogen-Synthase-Aktivitäten aufwiesen, handelt es sich bei der Krankheit der beiden Patienten wahrscheinlich um einen neuen enzymatischen Typ einer hereditären akuten hepatischen Porphyrie, deren Exkretionsprofil gegenüber den bisher bekannten akuten Porphyrien qualitativ absolut verschieden ist. Die Entdeckung dieser Porphyrie bestätigt die Theorie der fließenden biochemischen und klinischen Übergänge und Analogie zwischen den akuten hepatischen Porphyrien.

Schlüsselwörter

Hepatische Porphyrie Porphobilinogen-Synthase-Defekt Akute abdominale und neurologische Manifestationen Persistierende motorische Polyneuropathie Persistierende δ-Aminolävulinsäure- und Porphyrinausscheidung 

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Copyright information

© Springer-Verlag 1979

Authors and Affiliations

  • M. Doss
    • 1
  • R. von Tiepermann
    • 1
  • J. Schneider
    • 1
  • H. Schmid
    • 1
  1. 1.Abteilung für Klinische Biochemie und Medizinische Poliklinik im Fachbereich Humanmedizin der Universität MarburgGermany

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