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Related Experiment Videos

3-Methylglutaconic aciduria in "optic atrophy plus"

H Costeff1, O Elpeleg, N Apter

  • 1Neuropediatric Unit, Loewenstein Hospital, Raanana, Israel.

Annals of Neurology
|January 1, 1993
PubMed
Summary

Behr's syndrome, a rare genetic disorder causing optic atrophy and neurological issues, is linked to elevated 3-methylglutaconic acid excretion. Early detection through metabolic study is recommended for affected individuals.

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Area of Science:

  • Genetics and Metabolic Disorders
  • Neurology
  • Ophthalmology

Background:

  • Behr's syndrome is a rare, recessively inherited condition.
  • It presents with infantile optic atrophy and chronic neurological disturbances like ataxia and spastic paresis.
  • The syndrome is notably prevalent among Iraqi Jews.

Purpose of the Study:

  • To investigate the metabolic characteristics of Behr's syndrome patients.
  • To identify potential biomarkers for the condition.
  • To explore the prevalence and metabolic profile within the Iraqi Jewish population.

Main Methods:

  • Metabolic studies were conducted on 18 patients diagnosed with Behr's syndrome.
  • Urine samples were analyzed for organic acid excretion patterns.

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Main Results:

  • All 18 patients exhibited abnormally elevated urinary excretion of 3-methylglutaconic acid.
  • This finding suggests a consistent metabolic abnormality in affected individuals.

Conclusions:

  • Elevated 3-methylglutaconic aciduria is a significant indicator in Behr's syndrome.
  • Further research is needed to determine the underlying enzymatic defect.
  • Clinical examination for this organic aciduria is recommended for patients with early optic atrophy and motor dysfunction.