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: 1
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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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