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Amino acid disorders in mental retardation: a two-decade study from Andhra Pradesh

M Swarna1, A Jyothy, P Usha Rani

  • 1Institute of Genetics, Hospital for Genetic Diseases, Begumpet, Hyderabad 500 016, A.P., India.

Biochemical Genetics
|June 1, 2004
PubMed

Insights

Screening identified rare amino acid disorders in 0.9% of intellectually disabled children in Andhra Pradesh. The study highlights rare conditions and genetic factors like consanguinity in affected males.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Amino acid disorders are rare genetic conditions impacting cognitive development.
  • Intellectual disability in children necessitates screening for underlying metabolic causes.
  • Andhra Pradesh, India, has a significant population requiring targeted health programs.

Purpose of the Study:

  • To screen for amino acid disorders in children with mental handicaps in Andhra Pradesh.
  • To identify the prevalence and spectrum of rare amino acid disorders in this population.
  • To investigate potential contributing factors such as sex and parental consanguinity.

Main Methods:

  • A two-decade screening program targeting children with intellectual disabilities.
  • Biochemical analysis to detect and identify specific amino acid disorders.
  • Data collection on patient demographics, including sex and family history.

Main Results:

  • Detected 41 cases (0.9%) of amino acid disorders among 4500 children screened.
  • Identified rare conditions including dicarboxylic aminoaciduria, hydroxykynureninuria, persistent hypertyrosinemia, hydroxyprolinemia, and hypervalinemia.
  • Discovered a new metabolic defect, threoninemia, and noted a male preponderance and 54% parental consanguinity.

Conclusions:

  • Amino acid disorders are a significant, albeit rare, cause of intellectual disability in the region.
  • The screening program successfully identified diverse and rare metabolic defects.
  • Male predominance and high rates of parental consanguinity suggest genetic influences in these disorders.

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