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Indian Journal of Clinical Biochemistry

, Volume 18, Issue 2, pp 102–105 | Cite as

Hyper prolinuria and hyper-hydroxy prolinuria in children with mental retardation

  • M. Swarna
  • A. Jyothy
  • P. Usha Rani
  • P. P. Reddy
Article
  • 27 Downloads

Abstract

Three thousand cases with mental retardation referred from different hospitals were screened for aminoacid disorders. Among them one case of hyperprolinuria and another case of hyperprolinuria with hyper hydroxyprolinuria were detected. These are the first cases to be reported from the state of Andhra Pradesh.

Keywords

Mental retardation Hyperprolinuria Hyperhydroxyprolinuria 

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References

  1. 1.
    Efron, M. L. (1965) Familial hyperprolinemia-report of a second case associated with congenital manifestations, hereditary hematuria and mild mental retardation with demonstration of an enzyme defect. N. Engl. J. Med. 272, 1243–1248.PubMedCrossRefGoogle Scholar
  2. 2.
    Fusco, G., Carlomagno, S. and Remano, A. (1976) Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues. Opthalmalogica 173, 1–3.CrossRefGoogle Scholar
  3. 3.
    Oyangi, K., Tsuchiyam, A. and Itakura, Y. (1987) Clinical, biochemical and enzymatic studies in Type I hyperprolinemia associated with chromosomal abnormality. Tohoku Journal of Medicine 151, 465–475.CrossRefGoogle Scholar
  4. 4.
    Ishikawa, Y., Kameda, K., Okabe, M., Imai, T., Nagaoka, M., Minami, R. (1991) A case of Type I hyperprolinemia associated with photogenic epilepsy. No to Hattatsu 23, 81–86.PubMedGoogle Scholar
  5. 5.
    Shivananda, Rita Christopher and Prem Kumar (2000) Type I Hyperprolinemia Ind. J. Pediat. 67, 541–543.Google Scholar
  6. 6.
    Sharma, J. and Zweig, G. (1971) Paper chromatography volume II (eds) Zweig G and Whitaker J.R. Academic press. Inc. New York, London, 120.Google Scholar
  7. 7.
    McKusick, V.A. (1994) Mendelian inheritance in man. Catalogs of Human Genes and Genetic Disorders (Eleventh edition) Baltimore: John Hopkins University Press.Google Scholar
  8. 8.
    Rokkones, T. and Loken, A. C. (1968) Congenital renal dysplasia, renal dysplasia and mental retardation associated with hyperprolinuria and hyperhydroxyprolinuria. Acta. Pediat. Scand. 57, 225–229.CrossRefGoogle Scholar
  9. 9.
    Scriver, C. R., Schafer, L. A. and Efron, M. L. (1961) New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism. Nature 192, 672–673.CrossRefGoogle Scholar

Copyright information

© Association of Clinical Biochemists of India 2003

Authors and Affiliations

  • M. Swarna
    • 1
  • A. Jyothy
    • 1
  • P. Usha Rani
    • 1
  • P. P. Reddy
    • 1
  1. 1.Institute of Genetics and Hospital for Genetic DiseasesHyderabadIndia

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