Succinic semialdehyde dehydrogenase deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 740-742, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-339544
ABSTRACT
Succinic semialdehyde dehydrogenase (SSADH) deficiency is a rare autosomal recessive disorder. This paper reports three cases of SSADH deficiency in infants. The infants developed the symptoms including developmental delay, intellectual disability, hypotonia, hyporeflexia and seizures. The electroencephalogram (EEG) showed background slowing and focal spike discharges in all of 3 patients. Head magnetic resonance imaging (MRI) demonstrated abnormalities in 2 patients, including basal ganglia damage and increased T2-weighted signal in bilateral cerebral peduncles. Urinary organic acid analysis with gas chromatography-mass spectrometry (GC-MS) revealed increased levels of 4-hydroxybutyrate (GHB) in 3 patients. SSADH deficiency was definitely diagnosed based on the clinical manifestations and the results of urinary organic acid analysis in the 3 children. It was concluded that early urine organic acid analysis is essential for children presenting with mental retardation, neuropsychiatric disturbance or epilepsy of unknown etiology.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Terapêutica
/
Deficiências do Desenvolvimento
/
Diagnóstico
/
Diagnóstico Diferencial
/
Succinato-Semialdeído Desidrogenase
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Lactente
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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