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.
Artículo
en Chino
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Linaje
/
Descarboxilasas de Aminoácido-L-Aromático
/
Análisis Mutacional de ADN
/
Pruebas Genéticas
/
Estudios Retrospectivos
/
Genética
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Factores de riesgo
/
Estudio de tamizaje
Límite:
Humanos
/
Lactante
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
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