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<p>L-2-hydroxyglutaric aciduria (L-2-HGA, #236,792) is an autosomal recessive neurodegenerative disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (FAD)-dependent enzyme, due to biallelic pathogenic variants in the <i>L2HGDH</i> gene. The present study described the patient with L2HGA presenting with a slight psychomotor delay, epilepsy from 5&#xa0;years of age, non-progressive cerebellar ataxia, and mild to moderate intellectual disability during 10&#xa0;years of follow-up. Two different heterozygous variants in the <i>L2HGDH</i> gene were identified in the patient: a known substitution c.829C &gt; T(p.Arg277*) and a novel substitution c.1196 + 1G &gt; A corresponding with significantly increased urinary L-2-hydroxyglutarate (L2HG) excretion. A 6-month period of treatment with riboflavin (100&#xa0;mg/day) was implemented with no clinical nor biochemical effect.</p>

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Riboflavin treatment in L-2-hydroxyglutaric aciduria: report on a pediatric patient and literature review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月17日

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  • Patryk Lipiński,
  • Elżbieta Ciara,
  • Anna Bogdańska,
  • Elżbieta Jurkiewicz,
  • Anna Tylki-Szymańska

摘要

L-2-hydroxyglutaric aciduria (L-2-HGA, #236,792) is an autosomal recessive neurodegenerative disorder caused by the deficiency of L-2-hydroxyglutarate dehydrogenase, a flavin adenine dinucleotide (FAD)-dependent enzyme, due to biallelic pathogenic variants in the L2HGDH gene. The present study described the patient with L2HGA presenting with a slight psychomotor delay, epilepsy from 5 years of age, non-progressive cerebellar ataxia, and mild to moderate intellectual disability during 10 years of follow-up. Two different heterozygous variants in the L2HGDH gene were identified in the patient: a known substitution c.829C > T(p.Arg277*) and a novel substitution c.1196 + 1G > A corresponding with significantly increased urinary L-2-hydroxyglutarate (L2HG) excretion. A 6-month period of treatment with riboflavin (100 mg/day) was implemented with no clinical nor biochemical effect.