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09:28

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Published on: June 25, 2010

Study of inborn errors of metabolism in urine from patients with unexplained mental retardation

Angela Sempere1, Angela Arias, Guillermo Farré

  • 1Hospital Sant Joan de Déu, Centro de Investigación Biomédica en Red de Enfermedades Raras, ISCIII, Esplugues, Spain.

Journal of Inherited Metabolic Disease
|January 6, 2010
PubMed

Insights

Inborn errors of metabolism (IEM) were identified in 0.8% of patients with unexplained intellectual disability (ID). Early diagnosis and specific biochemical tests are crucial for managing these rare metabolic disorders.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Intellectual disability (ID) is a prevalent disorder with often unknown etiology.
  • Limited research exists on the connection between ID and inborn errors of metabolism (IEM).

Purpose of the Study:

  • To investigate the prevalence of IEM in a cohort of patients diagnosed with unexplained ID.
  • To identify specific IEMs within this patient group.

Main Methods:

  • Biochemical analyses were performed on urine samples.
  • Tests included determination of creatine (Cr) metabolites, acylcarnitines, purines, and pyrimidines.

Main Results:

  • Seven patients with IEM were identified, representing 0.8% of the cohort.
  • These included three cases of cerebral Cr deficiency syndromes (CCDS), one adenylosuccinate lyase (ADSL) deficiency, and three phenylketonuria (PKU) cases.
  • Associated symptoms included epilepsy, movement disorders, autism, and psychiatric disturbances.

Conclusions:

  • A thorough evaluation of associated signs and symptoms is essential for patients with ID.
  • Specific biochemical analyses are necessary for diagnosing IEMs.
  • Early diagnosis and treatment can reduce morbidity and mortality, and genetic counseling is important.

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