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Prolidase deficiency: a multisystemic hereditary disorder

R Bissonnette1, D Friedmann, J M Giroux

  • 1Department of Medicine, Hotel-Dieu of Montreal Hospital, University of Montreal, Quebec, Canada.

Journal of the American Academy of Dermatology
|November 1, 1993
PubMed
Summary
This summary is machine-generated.

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Prolidase deficiency is a rare genetic disorder causing skin issues, developmental delays, and infections. Treatment with glycine/proline or vitamin C was ineffective in two new cases.

Area of Science:

  • Genetics
  • Dermatology
  • Biochemistry

Background:

  • Prolidase deficiency is a rare autosomal recessive metabolic disorder.
  • It results from mutations in the Pidase gene, leading to impaired imidodipeptidase activity.
  • Clinical features include recurrent skin infections, eczematous dermatitis, characteristic facial features, and intellectual disability.

Observation:

  • This report details two new cases of prolidase deficiency.
  • Both patients presented with typical clinical manifestations of the disorder.
  • One patient also exhibited symptoms of lupus erythematosus.

Findings:

  • Enzyme activity assays revealed normal or half-normal prolidase levels in family members.
  • The skin manifestations in the affected patients were refractory to topical glycine/proline treatment.

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  • Oral vitamin C supplementation also failed to improve the dermatological symptoms.

    • Implications:

    • These cases highlight the diverse clinical spectrum of prolidase deficiency.
    • The lack of response to glycine/proline and vitamin C suggests limitations in current therapeutic approaches.
    • Further research into novel treatment strategies for prolidase deficiency is warranted.