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Acute Intermittent Porphyria in a Man with Dual Enzyme Deficiencies.

G N Cerbino1, L Abou Assali1, L S Varela1

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Case Reports in Genetics
|October 30, 2020
PubMed
Summary

This study reports a rare case of dual enzyme deficiencies in porphyria. A patient presented with symptoms of acute intermittent porphyria (AIP) and had mutations in both hydroxymethylbilane synthase (HMBS) and uroporphyrinogen decarboxylase (UROD) genes.

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Area of Science:

  • Biochemistry
  • Genetics
  • Metabolic Disorders

Background:

  • Porphyrias are inherited metabolic diseases affecting heme biosynthesis.
  • Porphyria cutanea tarda (PCT) involves uroporphyrinogen decarboxylase (UROD) deficiency.
  • Acute intermittent porphyria (AIP) is linked to hydroxymethylbilane synthase (HMBS) deficiency.

Observation:

  • A patient with a family history of PCT and a known UROD variant presented with severe abdominal pain.
  • Biochemical tests indicated AIP.
  • Genetic analysis revealed a de novo HMBS mutation.

Findings:

  • This case presents dual enzyme deficiencies in porphyria, with mutations in both UROD and HMBS.
  • It is the first confirmed instance of dual enzyme deficiencies in porphyria in Argentina.
  • The patient carried a UROD variant and a de novo HMBS variant.

Implications:

  • This case highlights the complexity of porphyria diagnosis.
  • Understanding dual enzyme deficiencies is crucial for accurate genetic counseling and patient management.
  • Further research into combined enzyme defects in heme biosynthesis is warranted.