Skip to main content
SpringerLink
Log in

Biochemical screening and mental retardation

  • Original Articles
  • Published:
The Indian Journal of Pediatrics Aims and scope Submit manuscript

Abstract

Biochemical screening for metabolic defects carried out among the mentally retarded at the National Institute of Mental Health and Neuro Sciences, led to the detection of 66 cases with metabolic defects which included cases of Phenylketonuria; Homocystinuria; Histidinemia; Hartnup’s disease; Hurler’s syndrome; Hunter’s syndrome; Hydroxyprolinemia; Tay-Sach’s disease; Kinky hair disease and Lesh-Nyhan syndrome. Preliminary studies made on biochemical screening of the new born are reported.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Tocci NP: Screening for metabolic diseases, in Amino Acid Metabolism and Genetic Variation. WL Nyhan (ed). McGraw Hill, New York, 1968. p. 461

    Google Scholar 

  2. Efron ML, Young D, Moser HW, MacCeady RA: A simple Chromatographic screening test for the detection of disorders of amino acid metabolism. New Engl J Med 270: 1378, 1964

    Article  PubMed  CAS  Google Scholar 

  3. Spaeth GL, Barber S: Cystinuria. Pediatrics 40: 586, 1967

    PubMed  CAS  Google Scholar 

  4. Gerber MG, Gerber DG: A simple screening test for histidinuria. Pediatrics 43: 40, 1969

    PubMed  CAS  Google Scholar 

  5. Smith II: Chromatographic and Electrophoretic Techniques. Vol. 1. William Heinemann Medical Publications.

  6. Jepson JB: Paper chromatography of urinary indoles. Lancet 1: 1009, 1955

    Article  Google Scholar 

  7. Lewis PW, Raine DN, Kennedy JF: Recognition of mucopoly-saccharides by screening tests. Ann Clin Biochem 11: 67. 1974

    Google Scholar 

  8. O’Brien D: Biochemical screening and diagnostic procedures in mental retardation, In Methods of Neurochemistry, Vol. 1 Fried R (ed): Marcel Dakker Inc. New York, p 173, 1971

    Google Scholar 

  9. O’Brien D, Ibbott IA, Rodgerson Do: Laboratory Manual of Pediatric Microbio-chemical Techniques. Harper and Row Publishers, New York, 1968

    Google Scholar 

  10. Raine DN, Westwood A: Congenital enzyme anomalies. In, Diagnostic Enzymology. Wilkinson JH (ed), Edward, Chicago, 1976, p 518

    Google Scholar 

  11. Guthrie R: Screening for inborn errors of metabolism in newborn infants, Birth Defects. Original Article Series 4: 92, 1968

    Google Scholar 

  12. Beutler E, Baluda MC, Donnell GN: A new method for the detection of galactosemia and its carrier state. J Lab Clin Med 64: 604, 1964

    Google Scholar 

  13. Sridhara Rama Rao BS, Subhash MN, Narayanan HS: Inborn errors of metabolism associated with mental retardation, In Frontiers of Knowledge in Mental retardation, Vol 11. Kittler P (ed) University Park Press, Baltimore, USA. 1981, p 273

    Google Scholar 

  14. Ambani LM: Evaluation and management of mental retardation. ICMR News Bulletin, 91: 1979

  15. Sinclair S: Etiological factors in mental retardation. Ind Ped 9: 391, 1972

    CAS  Google Scholar 

  16. Chandra P, Thirupuram S, Raju BV: Penylketonuria in Madras, Ind Ped 5: 209, 1968

    Google Scholar 

  17. Josema GE: Mental retardation in children. Ind Ped 11: 47, 1974

    Google Scholar 

  18. Verma IC, Sud N, Manerikar S: Homocystinuria. Ind Ped 11: 753, 1974

    CAS  Google Scholar 

  19. Kothari PD, Desai AD, Banerjee AP, Karandikar PV: Histidinemia. Neuroi (India) 92: 141, 1974

    Google Scholar 

  20. Srinivas K, Mascreen M, Valmikinathan K: Histidinemia. Proc Inst Neurol (Madras) 5: 67, 1975

    Google Scholar 

  21. Sarikantia SG, Venketechalam PS, Reddy V: Clinical and biochemical features of a case of Hartnup’s disease, Brit Med Jour 1: 282, 1964

    Article  Google Scholar 

  22. Somasundaram O, Papaknmari M: Hartnup’s disease. Ind Ped 10: 455. 1973

    CAS  Google Scholar 

  23. Chatterjee H, Chandrasekhar S, Verma RA: Three siblings with alpha iduronidase deficiency, In, Medical Genetics in India, Vol 1. IC Verma (ed), Auromo enterprises, Pondicherry, 1978, p 117

    Google Scholar 

  24. Abraham J, Chakrapani V, Singh M, Kokradi S, Bachawat BK: Hurler’s disease, a case. Ind Jour Med Res 57: 176, 1969

    Google Scholar 

  25. Kumta NB, Irani SE, Bhide AR, Punwani DV, Naik G: Hexosaminidase-A deficiency, In, Medical Genetics in India, Vol 1, IC Verma (ed), Auroma enterprises, Pondicherry, 1978, p 97

    Google Scholar 

  26. Rao B, Reddy B, Prabhakar V: Tay-Sach’s disease in an Indian Hindu Child. Ind Jour Med Res 18: 274, 1964

    CAS  Google Scholar 

  27. Manchanda SS, Nirankari MS, Mandgal MC: Tay-Sach’s disease. Brit J Opthalmol 41: 190, 1957

    Article  CAS  Google Scholar 

  28. Ghai OP, Khetarpal S: Amaurotic family idiocy. Ind J child Health 12: 107, 1963

    CAS  Google Scholar 

  29. Joshma GE, Bhaktarizam A, Balan VL: Mental retardation in children, Tay-Sach’s disease and infantile lipid storage disorders. Ind Ped 11: 369, 1974

    Google Scholar 

  30. Eldjarn L, Jellum E, Stokke O: Inborn errors of metabolism: A challenge to the clinical chemist. Clin Chem 21: 63, 1975

    PubMed  CAS  Google Scholar 

  31. Hill A, Casey R, Zaleski WA: Difficulties and pitfalls in the interpretation of screening tests for the detection for inborn errors of metabolism. Clin Chim Acta 72: 1976

Download references

Author information

Authors and Affiliations

  1. Department of Neurochemistry, National Institute of Mental Health & Neuro Sciences, 560 029, Bangalore, India

    B. S. Sridhara Rama Rao Ph.D, N. Jayasimha M.Sc. & M. N. Subhash M.Sc.

Authors
  1. B. S. Sridhara Rama Rao Ph.D
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. N. Jayasimha M.Sc.
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. M. N. Subhash M.Sc.
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Rama Rao, B.S.S., Jayasimha, N. & Subhash, M.N. Biochemical screening and mental retardation. Indian J Pediatr 49, 361–365 (1982). https://doi.org/10.1007/BF02834424

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF02834424

Keo words

Search

Navigation