Repository logo

Browsing by Issue Date, starting with "2020-06-05"

Filter results by year or month
Now showing 1 - 2 of 2
  • Tyrosinemia type III: a case report of siblings and literature review
    Publication . Barroso, Fábio; Correia, Joana; Bandeira, Anabela; Carmona, Carla; Vilarinho, Laura; Almeida, Manuela; Rocha, Júlio César; Martins, Esmeralda
    Objective: Tyrosinemia type III (HT III) is the rarest form of tyrosinemia, and the full clinical spectrum of this disorder is still unknown. The neurological involvement varies, including intellectual impairment and attention deficit disorder with hyperactivity (ADHD). We report the case of two siblings diagnosed with HT III at different ages. Case description: The index case was diagnosed by newborn screening for endocrine and metabolic disorders, starting a low-protein diet immediately, with a consistent decrease in tyrosine levels. By the age of three, the child displayed a hyperactive behavior, starting treatment for ADHD two years later. At seven years of age, he shows a slight improvement in terms of behavior and attention span and has a cognitive performance slightly lower than his peers, despite maintaining acceptable tyrosine levels. His sister, who had a history of ADHD since age five, was diagnosed with HT III after family screening at the age of eight. Despite initiating a dietetic treatment, her behavior did not improve, and she has a mild intellectual impairment. Comments: This is the first case report describing siblings with HT III who underwent nutritional treatment with a low-protein diet in different phases of life, with a better neurological and behavioral evaluation in the patient who started treatment earlier.
    2020-06-05Journal article Open access Show more
  • FoodCASE - O sistema de gestão de informação para a compilação da Tabela da Composição de Alimentos
    Publication . Oliveira, Luísa
    A Tabela da Composição de Alimentos é um documento de referência nacional para a composição dos alimentos consumidos em Portugal, que reúne informação sobre o teor de componentes/nutrientes (Energia, Macroconstituintes, Ácidos Gordos, Colesterol, Vitaminas e Minerais) em alimentos (crus, cozinhados e processados).
    2020-06-05Lecture Restricted access Show more