L-2-hydroxiglutaric aciduria: Three case reports

Year 2014, Volume: 39 Issue: 4, 0 - , 22.07.2014

Faruk İncecik Neslihan Mungan Özlem Mihriban Hergüner Deniz Kör Berna Şeker Sakir Altunbasak

https://doi.org/10.17826/cutf.11437

Abstract

L-2-hydroxiglutaric aciduria is a rare, autosomal recessive inherited metabolic disorder. The disease is characterized by intellectual disability, ataxia, extrapyramidal signs and seizures. Diagnosis is made by cranial magnetic resonance imaging and urine organic acid analysis. In this report, we presented three patients with L-2-hydroxiglutaric aciduria.

Keywords

L-2-hydroxiglutaric aciduria, clinical findings, treatment

L-2-Hidroksi Glutarik Asidüri: Üç Olgu Sunumu

Abstract

L-2-hidroksiglutarik asidüri nadir rastlanan, otozomal resesif geçişli, metabolik bir hastalıktır. Hastalık zihinsel engellilik, ataksi, ekstrapiramidal bulgular ve nöbetler ile gider. Tanısı kranial manyetik rezonans görüntüleme ve idrar organik asit incelemesi ile konur. Bu makalede L-2-hidroksiglutarik asidürili üç hastayı sunduk.

Keywords

L-2-hidroksiglutarik asidüri, klinik bulgular, tedavi

References

• Duran M, Kamerling JP, Bakker HD, van Gennip AH, Wadman SK. L-2-Hydroxyglutaric aciduria: an inborn error of metabolism? J Inherit Metab Dis. 1980;3:109
• Jequier GM, Roulet PE, Meagher WK, Jakobs C, Salomons GS, Boulat O, Superti-Furga A, Ballhausen D, Bonafé L. Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria. Eur J Pediatr. 2009;168:957-62.
• Moroni I, D’Incerti L, Farina L, Rimoldi M, Uziel G. Clinical, biochemical and neuroradiological findings in L-2-hydroxyglutaric aciduria. Neurol Sci. 2000;21:103-8.
• Fujitake J, Ishikawa Y, Fujii H, Nishimura K, Hayakawa K, Inoue F, Terada N, Okochi M, Tatsuoka Y. L-2-hydroxyglutaric aciduria: two Japanese adult cases in one family. J Neurol. 1999;246:378-82.
• Topçu M, Aydin OF, Yalçinkaya C, Haliloğlu G, Aysun S, Anlar B, Topaloğlu H, Turanli G, Yalnizoğlu D, Kesimer M, Coşkun T.. L-2-hydroxyglutaric aciduria: A report of 29 patients. Turk J Pediatr. 2005;47:1-7.
• Steenweg ME, Jakobs C, Errami A, van Dooren SJ, Adeva Bartolomé MT, Aerssens P, et al. An overview of L-2-hydroxyglutarate dehydrogenase gene (L2HGDH) variants: a genotype-phenotype study. Hum Mutat. 2010;31:380-90.
• Kranendijk M, Struys EA, Salomons GS, Van der Knaap MS, Jakobs C. Progress in understanding 2hydroxyglutaric acidurias. J Inherit Metab Dis. 2012;35:571-87.
• Seijo MM, Navarro C, Castro del Río M, Vila O, Puig M, Ribes A, Butron M. L-2-hydroxyglutaric aciduria: clinical, neuroimaging, and neuropathological findings. Arch Neurol. 2005;62:666-70.
• Yılmaz K. Riboflavin treatment in a case with l-2hydroxyglutaric aciduria. Eur J Paediatr Neurol. 2009;13:57-60.
• Yazışma Adresi / Address for Correspondence: Dr. Faruk İncecik Çukurova Üniversitesi Tıp Fakültesi Çocuk Nöroloji Anabilim Dalı ADANA E-mail:[e-mail] G eliş tarihi/received : 22.01.2014
• Kabul tarihi/accepted: 27.02.2014