Literature DB >> 6795726

Biochemical screening for inherited metabolic disorders in the mentally retarded.

H E Henderson, R Goodman, J Schram, E Diamond, A Daneel.   

Abstract

A biochemical screening programme for the detection of inherited metabolic disease was carried out on urine and blood samples from inmates of the Alexandra Institute for the mentally retarded, Cape Town. Of the 1087 patients screened, positive results for phenylketonuria were obtained in 3, for cystinuria in 2 and for Hartnup disease in 1. The overall frequency of metabolic disorders was 0,6%. It is evident that genetic metabolic disease as detected by current screening procedures makes only a small contribution to the overall burden of mental retardation.

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Year:  1981        PMID: 6795726

Source DB:  PubMed          Journal:  S Afr Med J


  3 in total

Review 1.  Medical genetics in South Africa.

Authors:  T Jenkins
Journal:  J Med Genet       Date:  1990-12       Impact factor: 6.318

2.  Diagnostic yield from routine metabolic screening tests in evaluation of global developmental delay and intellectual disability.

Authors:  Hilary Vallance; Graham Sinclair; Bojana Rakic; Sylvia Stockler-Ipsiroglu
Journal:  Paediatr Child Health       Date:  2020-12-19       Impact factor: 2.253

3.  Phenylketonuria in Kuwait and Arab countries.

Authors:  A S Teebi; S A Al-Awadi; T I Farag; K K Naguib; M Y el-Khalifa
Journal:  Eur J Pediatr       Date:  1987-01       Impact factor: 3.183

  3 in total

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