We are analyzing https://link.springer.com/article/10.1007/s10545-007-0576-0.

Title:
Osteoma of the calvaria in l-2-hydroxyglutaric aciduria | Journal of Inherited Metabolic Disease
Description:
l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes l-2-hydroxyglutarate dehydrogenase, which normally catalyses l-2-hydroxyglutarate to α-ketoglutarate. It is characterized by progressive mental deterioration, pyramidal and cerebellar syndromes, macrocephaly and marked polycystic white-matter degeneration mainly involving frontal lobes. Brain tumours of variable nature have frequently been observed in l-2-OHGA. We report a patient affected by this disease who at the age of 20 years developed a bone tumour involving the right frontal region of the calvaria. He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome. Brain MRI showed low signal intensities on T1-weighted images and high signal intensities on T2-weighted images in cerebral subcortical white matter. Serum and urinary amino acid assay was normal. Urinary 2-hydroxyglutaric acid was 1418 mmol/mol creatinine (controls <25). Analysis of the l-2-hydroxyglutarate dehydrogenase gene revealed a homozygous mutation in exon 2 (A320G). At the age of 20 years, an osteoma of the right frontal bone was diagnosed. This finding reinforces the opinion concerning the association of l-2-OHGA and tumorigenesis and prompted us to verify the possible responsibility of some overproduced substances in this disease for the development of tumours and to look for any correlation between the type of mutation in the l-2-OHGA gene and the tumorigenic potential observed in some patients affected by this disease.
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Keywords {🔍}

article, disease, mutation, lhydroxyglutaric, aciduria, gene, privacy, cookies, content, journal, report, larnaout, access, information, publish, search, metabolic, lohga, cerebellar, frontal, bone, rabta, tunis, tunisia, data, log, research, osteoma, calvaria, amouri, neji, lhydroxyglutarate, dehydrogenase, nature, age, years, ataxia, signal, lhgdh, discover, author, institut, national, neurologie, pdf, springer, optional, analysis, personal, parties,

Topics {✒️}

high signal intensities inherited metabolic disease encodes l-2-hydroxyglutarate dehydrogenase month download article/chapter bone tumour involving cerebellar ataxia frontal bone homozygous mutation l-2-ohga gene protein truncating mutation compound heterozygous mutation privacy choices/manage cookies involving frontal lobes frameshift l2hgdh mutation l-2-hydroxyglutaric aciduria urinary 2-hydroxyglutaric acid electronic supplementary material catalyses l-2-hydroxyglutarate full article pdf author correspondence examination showed macrocephaly european economic area progressive mental deterioration moderate mental impairment t1-weighted images t2-weighted images 1418 mmol/mol creatinine l2hgdh gene conditions privacy policy cerebellar syndromes check access instant access accepting optional cookies tumorigenic potential observed hôpital la rabta journal finder publish main content log frontal region gene variable nature article journal mutation related subjects information article log privacy policy personal data l-2-ohga brain tumours case report

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         headline:Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
         description: l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes l-2-hydroxyglutarate dehydrogenase, which normally catalyses l-2-hydroxyglutarate to α-ketoglutarate. It is characterized by progressive mental deterioration, pyramidal and cerebellar syndromes, macrocephaly and marked polycystic white-matter degeneration mainly involving frontal lobes. Brain tumours of variable nature have frequently been observed in l-2-OHGA. We report a patient affected by this disease who at the age of 20 years developed a bone tumour involving the right frontal region of the calvaria. He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome. Brain MRI showed low signal intensities on T1-weighted images and high signal intensities on T2-weighted images in cerebral subcortical white matter. Serum and urinary amino acid assay was normal. Urinary 2-hydroxyglutaric acid was 1418 mmol/mol creatinine (controls <25). Analysis of the l-2-hydroxyglutarate dehydrogenase gene revealed a homozygous mutation in exon 2 (A320G). At the age of 20 years, an osteoma of the right frontal bone was diagnosed. This finding reinforces the opinion concerning the association of l-2-OHGA and tumorigenesis and prompted us to verify the possible responsibility of some overproduced substances in this disease for the development of tumours and to look for any correlation between the type of mutation in the l-2-OHGA gene and the tumorigenic potential observed in some patients affected by this disease.
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      headline:Osteoma of the calvaria in l-2-hydroxyglutaric aciduria
      description: l-2-Hydroxyglutaric aciduria (l-2-OHGA) is a rare autosomal recessive neurometabolic disease linked to chromosome 14q21.1 and is caused by mutations in the gene that most likely encodes l-2-hydroxyglutarate dehydrogenase, which normally catalyses l-2-hydroxyglutarate to α-ketoglutarate. It is characterized by progressive mental deterioration, pyramidal and cerebellar syndromes, macrocephaly and marked polycystic white-matter degeneration mainly involving frontal lobes. Brain tumours of variable nature have frequently been observed in l-2-OHGA. We report a patient affected by this disease who at the age of 20 years developed a bone tumour involving the right frontal region of the calvaria. He had first presented at the age of 10 years with psychomotor delay, clumsy gait and moderate mental impairment. Examination showed macrocephaly, cerebellar ataxia and quadripyramidal syndrome. Brain MRI showed low signal intensities on T1-weighted images and high signal intensities on T2-weighted images in cerebral subcortical white matter. Serum and urinary amino acid assay was normal. Urinary 2-hydroxyglutaric acid was 1418 mmol/mol creatinine (controls <25). Analysis of the l-2-hydroxyglutarate dehydrogenase gene revealed a homozygous mutation in exon 2 (A320G). At the age of 20 years, an osteoma of the right frontal bone was diagnosed. This finding reinforces the opinion concerning the association of l-2-OHGA and tumorigenesis and prompted us to verify the possible responsibility of some overproduced substances in this disease for the development of tumours and to look for any correlation between the type of mutation in the l-2-OHGA gene and the tumorigenic potential observed in some patients affected by this disease.
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      dateModified:2007-10-05T00:00:00Z
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         Cerebellar Ataxia
         Homozygous Mutation
         Dehydrogenase Gene
         Frontal Bone
         Metabolic Diseases
         Human Genetics
         Pediatrics
         Internal Medicine
         Biochemistry
         general
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