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Alkaptonuria: Current Perspectives.

Andrea Zatkova1, Lakshminarayan Ranganath2, Ludevit Kadasi1,3

  • 1Department of Human Genetics, Biomedical Research Center, Slovak Academy of Sciences, Institute of Clinical and Translational Research, Bratislava, Slovakia.

The Application of Clinical Genetics
|March 12, 2020
PubMed
Summary
This summary is machine-generated.

Alkaptonuria (AKU), a metabolic disorder, is seeing significant research advancements. Nitisinone shows promise as a treatment, potentially offering a cure for this rare disease by 2020.

Keywords:
alkaptonurianitisinoneochronosisochronotic pigmentrare disease

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Area of Science:

  • Biochemistry
  • Genetics
  • Rare Diseases

Background:

  • Alkaptonuria (AKU) is a rare metabolic disorder caused by homogentisate dioxygenase (HGD) deficiency.
  • It leads to dark pigment deposition in connective tissues due to elevated homogentisic acid levels.
  • AKU serves as a classic example of Mendelian inheritance.

Purpose of the Study:

  • To evaluate the efficacy and safety of nitisinone in treating AKU.
  • To explore potential future therapeutic strategies for AKU.
  • To understand factors influencing AKU disease severity.

Main Methods:

  • Phase III clinical study (SONIA 2) assessing nitisinone.
  • Genotype-phenotype correlation studies.
  • Development of a novel mouse model for AKU research.

Main Results:

  • Positive results from the SONIA 2 study indicate nitisinone's effectiveness and safety.
  • Nitisinone treatment can halt the ochronosis process.
  • Genotype-phenotype studies did not identify mutation-specific residual enzyme activity as a cause for varying disease severity.

Conclusions:

  • Nitisinone is a promising therapeutic agent for AKU, with potential for regulatory approval.
  • While nitisinone manages ochronosis, it is not a complete cure, necessitating further research.
  • Enzyme replacement or gene therapy, supported by a new AKU mouse model, represent future research directions.