Acute intermittent porphyria and mental illness--a family study

Acta Psychiatr Scand. 1994 Apr;89(4):262-7. doi: 10.1111/j.1600-0447.1994.tb01511.x.


All cases of acute intermittent porphyria (AIP) are believed to be caused by a mutation in the gene encoding for porphobilinogen deaminase, a rate-limiting enzyme in the haem synthetic pathway. This gene has been mapped to the long arm of chromosome 11, a region of the genome that has recently attracted considerable attention as a possible location for genes implicated in major mental disorder. This study was designed to show whether major mental illness co-segregated with acute intermittent porphyria in families where the two conditions are found. The study also investigated the relation between clinical mental symptoms and biochemical parameters of acute intermittent porphyria. The case records of 344 consecutive patients admitted to the Porphyrias Research Group in the Western Infirmary in Glasgow between 1950 and 1988 with acute intermittent porphyria were examined for evidence of psychiatric contact. Of 16 individuals identified, 12 were available for the study. Forty relatives of these 12 probands, including 9 who were asymptomatic carriers of AIP, were interviewed for lifetime history of mental illness and current symptoms. Comparisons were made between 4 groups of patients based on urinary porphyrin levels and erythrocyte enzyme activity; 1) manifest acute intermittent porphyria, 2) latent acute intermittent porphyria, 3) normal relatives and 4) total acute intermittent porphyria (latent and manifest combined). No association was found between AIP and schizophrenia or manic-depressive illness. Only one patient with schizophrenia was found in the sample of 344 case notes, and in 2 families bipolar illness was found but did not segregate with acute intermittent porphyria. The commonest psychiatric diagnosis in patients was generalized anxiety.(ABSTRACT TRUNCATED AT 250 WORDS)

Publication types

  • Comparative Study

MeSH terms

  • Adult
  • Aged
  • Anxiety Disorders / diagnosis
  • Chromosome Aberrations
  • Chromosome Disorders
  • Chromosomes, Human, Pair 11
  • Diagnosis, Differential
  • Female
  • Humans
  • Hydroxymethylbilane Synthase / blood
  • Hydroxymethylbilane Synthase / metabolism
  • Male
  • Mental Disorders / etiology
  • Middle Aged
  • Porphyria, Acute Intermittent / diagnosis
  • Porphyria, Acute Intermittent / enzymology
  • Porphyria, Acute Intermittent / genetics*
  • Psychiatric Status Rating Scales
  • Retrospective Studies


  • Hydroxymethylbilane Synthase