Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria

MA Yan-Yan; SONG Jin-Qing; WU Tong-Fei; LIU Yu-Peng; XIAO Jiang-Xi; JIANG Yu-Wu; YANG Yan-Ling

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Chinese Journal of Contemporary Pediatrics ›› 2011, Vol. 13 ›› Issue (5) : 392-395.

COMPLICATED CASE STUDY

Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria

MA Yan-Yan, SONG Jin-Qing, WU Tong-Fei, LIU Yu-Peng, XIAO Jiang-Xi, JIANG Yu-Wu, YANG Yan-Ling

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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.

Key words

Leucodystrophy / Late onset / 3-Hydroxy-3-methylglutaric aciduria / 3-Hydroxy-3-methylglutaryl-coenzyme A lyase / Child

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MA Yan-Yan, SONG Jin-Qing, WU Tong-Fei, LIU Yu-Peng, XIAO Jiang-Xi, JIANG Yu-Wu, YANG Yan-Ling. Leucodystrophy induced by late onset 3-hydroxy-3-methylglutaric aciduria[J]. Chinese Journal of Contemporary Pediatrics. 2011, 13(5): 392-395

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