A 7-YEAR-OLD BOY WITH HAND TREMORS AND A NOVEL MUTATION FOR L-2-HYDROXYGLUTARIC ACIDURIA
Olgac A1,*, Tekin Orgun L2, Ezgü FS1, Biberoǧlu G1, Tümer L1
*Corresponding Author: Dr. Asburce Olgac, Department of Pediatric Metabolism and Nutrition, Gazi University Hospital, Mevlana Bulvarı, Ankara, Turkey. Tel: +90-533-962-7800. Fax: +90-312-202-6027. E-mail: mabolgac@yahoo.com
page: 93

CONCLUSIONS

L-2-hydroxyglutaric aciduria is a cerebral organic aciduria that may lead to various neurological complications. Early recognition of symptoms and initiation of supportive therapy may slow down the progression of the disease. It is necessary to keep in mind that the symptoms of various inborn errors of metabolism may be obscure and detailed neurological examination should be a part of routine pediatric visits. Cranial MRI studies may be helpful to diagnose patients who are suspected to have a neurometabolic disorder.



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