Resumen

SOUZA, Isabel Cristina Neves de; MARTINS, Ana Maria; D'ALMEIDA, Vânia  y  SILVA, Luiz Carlos Santana da. Urinary screening for inborn errors of metabolism among children with delayed development. Rev. Para. Med. [online]. 2007, vol.21, n.2, pp.23-28. ISSN 0101-5907.

OBJECTIVES: to investigate the frequency of positive urinary screening for inborn errors of metabolism among children with delayed development and to correlate clinical characteristics of the population studied with the screening results. METHODS: this was a cross-sectional descriptive study, performed within the Early Stimulation Program of the Mother-Child and Adolescent Referral Unit of the State of Pará, on 197 children with delays development, by means of undertaking qualitative urine tests. RESULTS: around 52.8% (104/197) of the patients presented positive results for at least one test. Children originating from other municipalities outside of Belém, the State Capital, had a higher proportion of positive tests, with p=0.003*. There was a higher proportion of positive tests when similar cases were reported in the family, or when there were stillbirths or deaths among siblings. Among the clinical manifestations investigated, convulsions and feeding problems had prominent frequencies. CONCLUSIONS: the results encountered show the relevance of research regarding inborn errors of metabolism among children with delayed development. Urinary screening is also an important laboratory tool for use in initial investigations.

Palabras clave : inborn errors of metabolism; urinary screening; delayed development.

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