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
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Abstract
L-2-hydroxyglutaric aciduria (L2HGA), which is a
rare autosomal recessive metabolic disorder caused by
mutations in the encoding L2HGDH gene. Neurological
symptoms are the main predominant clinical signs. The
distinctive feature is the specific multifocal lesion of the
white matter detected on magnetic resonance imaging
(MRI). A 7-year-old male patient of Turkish origin was
admitted to the hospital because of hand tremors. Physical
examination revealed macrocephaly, intention tremors,
walking disability and ataxic gait. Urine organic acid analysis
showed increased excretion of L-2-hydroxyglutaric
acid (L2HG acid). Analysis of the L2HGDH gene revealed
a novel homozygous c.368A>G, p. (Tyr123Cys) mutation.
L-2-hydroxyglutaric aciduria is a cerebral organic aciduria
that may lead to various neurological complications.
Early recognition of symptoms of L2HGA is important for
initiation of supportive therapy that may slow down the
progression of the disease.
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