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Sintomas secundários também podem ocorrer2

  • Crises epilépticas
  • Distúrbios do sono
  • Problemas comportamentais como irritabilidade ou choro excessivo
  • Características que lembram autismo
  • Problemas gastrointestinais
    • Diarreia
    • Constipação
    • Refluxo gastroesofágico
  • Dificuldade para se alimentar 

Cadastre-se para receber atualizações e materiais sobre a deficiência de AADC

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Referências: 1. Brun L, Ngu LH, Keng WT, et al. Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology. 2010;75(1):64-71. 2. Wassenberg T, Molero-Luis M, Jeltsch K, et al. Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency. Orphanet J Rare Dis. 2017;12(1):12. 3. Hwu WL, Lee NC, Chien YH, et al. AADC deficiency: occurring in humans, modeled in rodents. Adv Pharmacol. 2013;68:273-284. 4. Hwu WL, Chien YH, Lee NC, et al. Natural history of aromatic L-amino acid decarboxylase deficiency in Taiwan. JIMD Rep. 2018;40:1-6. 5. Pons R, Ford B, Chiriboga CA, et al. Aromatic L-amino acid decarboxylase deficiency: clinical features, treatment, and prognosis. Neurology. 2004;62(7):1058-1065. 6. Lee WT. Disorders of monoamine metabolism: inherited disorders frequently misdiagnosed as epilepsy. Epilepsy & Seizure. 2010;3(1):147-153.