Feeding difficulty and developmental delay for 8 months and nystagmus for 4 months in an infant / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 68-72, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-351399
ABSTRACT
Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare autosomal recessive hereditary disease and is a congenital metabolic disorder of neurotransmitter biosynthesis. It is mainly manifested as hypotonia, oculogyric crisis, autonomic dysfunction, and developmental delay. This article reports a boy manifested as delayed motor development, hypotonia, and oculogyric crisis. Gene screening for metabolic disorders revealed new compound heterozygous mutations, c.1063dupA (p.I355fs) and c.250A>C (p.S84R), in the exon of DDC gene. The boy had a significant increase in 3-O-methyldopa as measured by dried blood spot. Therefore, he was diagnosed with AADC deficiency. After treatment with the dopamine receptor agonist pramipexole dihydrochloride, the catechol-O-methyltransferase inhibitor entacapone, and vitamin B6, the boy showed mild improvements in hypotonia, blepharoptosis, and oculogyric crisis. Clinical physicians should enhance their ability for identifying AADC deficiency, so as to facilitate early diagnosis and treatment of this disorder. Genetic counseling for birth health and prenatal diagnosis should be performed for parents in need.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Descarboxilases de Aminoácido-L-Aromático
/
Transtornos da Alimentação e da Ingestão de Alimentos
/
Deficiências do Desenvolvimento
/
Nistagmo Patológico
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Estudo prognóstico
/
Estudo de rastreamento
Limite:
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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