phenylketonuria

• Doença metabólica genética caracterizada pela ausência da enzima necessária para converter fenilalanina em tirosina, o que leva ao acúmulo de fenilalanina nos fluidos corporais e pode causar diferentes graus de deficiência intelectual.

A genetic metabolic disorder characterized by the absence of an enzyme required to convert phenylalanine into tyrosine, leading to an accumulation of phenylalanine in body fluids and potentially causing varying degrees of intellectual disability.

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1. Genetic metabolic disorderC2formalmedical

   A rare inherited condition where the body cannot break down the amino acid phenylalanine, leading to its buildup and potential brain damage if untreated.

   Distúrbio metabólico genético

   • Newborns are routinely screened for phenylketonuria.
   • A strict low-protein diet is essential for managing phenylketonuria.
   • Untreated phenylketonuria can cause severe intellectual disability.

   Sinônimospku