Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia

Arquivos de Neuro-Psiquiatria

Maria Betânia Pereira²  Gildásio Carvalho Da Conceição¹  Janice C. Coelho¹  Moacir Wajner¹  Roberto Giugliani¹ 

[1],Universidade Federal da Bahia Hospital Universitário Prof. Edgard Santos Laboratório de Genética MédicaSalvador BA ,Brazil

关键词: Mental deficiency;    inborn errors of metabolism;    metabolic disorders;    amino acid disorders;    lysosomal disorders;    retardo mental;    erros inatos do metabolismo;    doenças metabólicas;    aminoacidopatias;    doenças lisossômicas;   

DOI  :  10.1590/S0004-282X1997000200007

来源: SciELO

【 摘 要 】

The purpose of this pilot-study was to evaluate the applicability of a screening protocol for the detection of inborn errors of metabolism (IEM) in high-risk patients. The protocol was applied in 65 patients referred to the Medical Genetics Laboratory of the University Hospital Professor Edgard Santos due to the suspicion of an IEM. Eight of these patients (12.3%) displayed an abnormal result in the screening protocol. These patients, along with 22 who displayed normal results in the screening protocol but who presented clinical symptoms or signs suggestive of an IEM not detectable by the tests applied, were selected for a further diagnostic investigation. In 5 of these 30 patients (7.7% of the total sample) it was possible to establish the diagnosis of an specific IEM. The results indicate that the designed screening protocol was sucessfully applied, allowing the detection of affected patients in a frequency comparable to that observed in larger studies performed elsewhere. The continuation of this study and the enlargement of the sample will help to delineate the profile of IEM in northeast of Brazil and will allow the identification of a significative number of patients and families, who could benefit from the therapeutic and preventive measures available for these diseases.

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