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Clinical and genetic analysis of two pedigrees affected with aromatic L-amino acid decarboxylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 1085-1089, 2019.
Artigo em Chinês | WPRIM | ID: wpr-776741
ABSTRACT
OBJECTIVE@#To delineate the clinical and genetic features of two pedigrees affected with aromatic L-amino acid decarboxylase (AADC) deficiency.@*METHODS@#The clinical features, family history and results of genetic testing of 2 patients with AADC deficiency were retrospectively analyzed.@*RESULTS@#Both patients featured hypotension, developmental delay and oculogyric crisis during infancy. Genetic testing confirmed that they have respectively carried c.714+ 4 (IVS6) A to T/c.175(exon2)G TO A compound heterozygous variants and c.714+ 4(IVS6)A to T homozygous variant.@*CONCLUSION@#The clinical manifestation of children with AADC deficiency may include hypotonia, developmental delay and paroxysmal oculogyric crisis. The combination of 3-O-methyldopa testing and variant analysis is not only very useful for early diagnosis, but also important for the evaluation of treatment effect and prognosis of the disease. Discovery of the novel variants has enriched the variant spectrum of AADC deficiency.
Assuntos
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Descarboxilases de Aminoácido-L-Aromático / Análise Mutacional de DNA / Testes Genéticos / Estudos Retrospectivos / Genética / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Estudo observacional / Estudo prognóstico / Fatores de risco / Estudo de rastreamento Limite: Humanos / Lactente Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Assunto principal: Linhagem / Descarboxilases de Aminoácido-L-Aromático / Análise Mutacional de DNA / Testes Genéticos / Estudos Retrospectivos / Genética / Erros Inatos do Metabolismo dos Aminoácidos Tipo de estudo: Estudo observacional / Estudo prognóstico / Fatores de risco / Estudo de rastreamento Limite: Humanos / Lactente Idioma: Chinês Revista: Chinese Journal of Medical Genetics Ano de publicação: 2019 Tipo de documento: Artigo