A Genetic Study of Two Families Having the Acute Intermittent Type of Porphyria
- 1 July 1961
- journal article
- research article
- Published by American College of Physicians in Annals of Internal Medicine
- Vol. 55 (1) , 81-93
- https://doi.org/10.7326/0003-4819-55-1-81
Abstract
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 orKeywords
This publication has 29 references indexed in Scilit:
- Hyponatremia and Renal Wasting of Sodium in Patients with Malfunction of the Central Nervous SystemNew England Journal of Medicine, 1960
- Effect of Phenylalanine Metabolites on Urinary Excretion of Indole-3-acetic Acid and 5-Hydroxyindole-3-acetic Acid in Man.Experimental Biology and Medicine, 1960
- Tryptophan metabolism in porphyria, schizophrenia, and a variety of neurologic and psychiatric diseasesNeurology, 1959
- OCCURRENCE AND DETERMINATION OF DELTA-AMINOLEVULINIC ACID AND PORPHOBILINOGEN IN URINE1956
- THE IDENTIFICATION OF 5-HYDROXY-3-INDOLEACETIC ACID IN NORMAL URINE AND A METHOD FOR ITS ASSAYJournal of Biological Chemistry, 1955
- Porphyrin Concentration from Ultraviolet Extinction a Note on the CalculationScandinavian Journal of Clinical and Laboratory Investigation, 1955
- On the excretion of indole derivatives in phenylketonuriaArchives of Biochemistry and Biophysics, 1954
- AN IMPROVED METHOD FOR THE DETERMINATION OF URINARY COPROPORPHYRIN AND AN EVALUATION OF FACTORS INFLUENCING THE ANALYSIS1951
- The Spectrophotometric Determination of UroporphyrinScandinavian Journal of Clinical and Laboratory Investigation, 1950
- SODIUM AND CHLORIDE DEPLETION IN ACUTE PORPHYRIA WITH REFERENCE TO THE STATUS OF ADRENAL CORTICAL FUNCTIONJournal of Clinical Investigation, 1949