Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 392-395, 2011.
Artigo
em Chinês
| WPRIM
| ID: wpr-308781
ABSTRACT
3-Hydroxy-3-methylglutaric aciduria is a rare disorder of organic acid metabolism caused by 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency. The disorder was common in neonatal or infant period. Here a case of late onset 3-hydroxy-3-methylglutaric aciduria complicated by leucodystrophy was reported. The patient was a 7-year-old boy. He presented with progressive headache, drowsiness and vomiting. Hepatic lesions, ketosis and leucopenia were found. Symmetrical diffused leucodystrophy was shown by MRI. Blood levels of isovalerylcarnitine and acetylcarnitine increased significantly. Urinary levels of 3-hydroxy-3-methylglutaric, 3-methylglutaconic, 3-hydroxyglutaric acids and 3-methyl-crotonylglycine increased significantly. Symptoms were released by intravenous infusion of L-carnitine and glucose. After treatment for 6 months, urinary levels of 3-hydroxy-3-methylglutaric aciduria decreased in the boy and his health improved.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Acetil-CoA C-Acetiltransferase
/
Doenças Desmielinizantes Hereditárias do Sistema Nervoso Central
/
Diagnóstico
/
Erros Inatos do Metabolismo dos Aminoácidos
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2011
Tipo de documento:
Artigo
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