Resumo
Definição
História e exame físico
Principais fatores diagnósticos
- história familiar de PKU
- rastreamento neonatal positivo para PKU
Outros fatores diagnósticos
- deficiência intelectual
- microcefalia
- eczema
- pigmentação clara dos olhos e do cabelo
- convulsões
- odor de bolor da urina
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- rastreamento neonatal para transtornos metabólicos
Investigações a serem consideradas
- análise quantitativa de aminoácido plasmático
- ensaio de di-hidropteridina redutase (DHPR) no sangue
- proporção neopterina/biopterina urinária
- análise da mutação do gene da fenilalanina hidroxilase
- teste de responsividade à BH4
Algoritmo de tratamento
Colaboradores
Autores
Professor of Pediatrics
Northwestern University Feinberg School of Medicine
Director
PKU Clinic
Ann and Robert H. Lurie Children’s Hospital of Chicago
Chicago
IL
Declarações
BKB has received consulting fees and funding for the conduct of clinical trials from BioMarin Pharmaceutical, the manufacturer of sapropterin and pegvaliase (pegylated phenylalanine ammonia-lyase).
Revisores
Senior Physician in Medicine/Genetics
Children's Hospital Boston
Professor of Pediatrics
Harvard Medical School
Boston
MA
Declarações
HLL has served on the PKU Scientific Advisory Board for BioMarin Pharmaceuticals Inc. and has received consultation fees from the company for attending meetings, giving lectures, and participating in symposia. BioMarin markets treatment for phenylketonuria.
Professor of Pediatrics
University of Munich
Head of Division of Metabolic Diseases and Nutritional Medicine
Dr von Hauner Children's Hospital
Ludwig-Maximilians-University of Munich
Lindwurmstr
Germany
Declarações
BK has received research support from Danone Medical Nutrition and is the recipient of a Freedom to Discover Award of the Bristol Myers Squibb Foundation.
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