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[delta-Aminolevulinate dehydratase deficiency]

H Fujita1, N Ishida, R Akagi

  • 1Department of Applied Physiology and Molecular Biology, Tohoku University School of Medicine.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|June 1, 1995
PubMed
Summary

Delta-aminolevulinate dehydratase (ALAD) deficiency, crucial for heme synthesis, causes hepatic porphyria. This review details molecular mechanisms behind ALAD defects and their health impacts.

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Area of Science:

  • Biochemistry
  • Enzymology
  • Human Genetics

Context:

  • Heme biosynthesis is vital for cellular function.
  • Delta-aminolevulinate dehydratase (ALAD) catalyzes a key step in heme production.
  • ALAD deficiency leads to hepatic porphyria.

Purpose:

  • To elucidate the molecular and biochemical mechanisms underlying ALAD deficiency.
  • To categorize the causes of ALAD deficiency.
  • To discuss the health implications of ALAD defects.

Summary:

  • ALAD, the second enzyme in heme synthesis, condenses delta-aminolevulinic acid to form porphobilinogen.
  • ALAD deficiency manifests as hepatic porphyria and arises from genetic defects (ALAD porphyria, tyrosinemia type I) or environmental inhibitors (lead, trichloroethylene, styrene).
  • Succinylacetone, a byproduct of tyrosinemia type I, is a potent ALAD inhibitor.

Impact:

  • Understanding ALAD's role is critical for diagnosing and managing porphyrias.
  • Identifying environmental triggers for ALAD inhibition aids in public health and occupational safety.
  • Elucidating these mechanisms provides insights into heme metabolism disorders.

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