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.
Artículo
en Chino
| 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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Acetil-CoA C-Acetiltransferasa
/
Enfermedades Desmielinizantes del Sistema Nervioso Central Hereditarias
/
Diagnóstico
/
Errores Innatos del Metabolismo de los Aminoácidos
Tipo de estudio:
Estudio diagnóstico
Límite:
Niño
/
Humanos
/
Masculino
Idioma:
Chino
Revista:
Chinese Journal of Contemporary Pediatrics
Año:
2011
Tipo del documento:
Artículo
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