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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Acetyl-CoA C-Acetyltransferase
/
Hereditary Central Nervous System Demyelinating Diseases
/
Diagnosis
/
Amino Acid Metabolism, Inborn Errors
Type of study:
Diagnostic study
Limits:
Child
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2011
Type:
Article
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