Ontology highlight
ABSTRACT:
SUBMITTER: Barroso F
PROVIDER: S-EPMC7274528 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Barroso Fábio F Correia Joana J Bandeira Anabela A Carmona Carla C Vilarinho Laura L Almeida Manuela M Rocha Júlio César JC Martins Esmeralda E
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo 20200605
<h4>Objective</h4>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.<h4>Case description</h4>The index case was diagnosed by newborn screening for endocrine and metabolic disorders, starting a low-protein diet immed ...[more]