| Tracing the origin of L-2-hydroxyglutaric aciduria in a family. | |
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MedLine Citation:
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PMID: 19863265 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe late diagnosis of an adult with L-2-hydroxyglutaric aciduria (MIM 236792) on the basis of characteristic metabolite data and mutation analysis in the L2HGDH gene. The patient lacked MRI abnormalities which have been purported to be constant or typical findings in this disease. We further report the genetic status of his parents and his one living sibling. Our observations underline the clinical heterogeneity of the syndrome of L-2-hydroxyglutaric aciduria. This report emphasizes the diagnostic benefit of the assessment of urinary organic acids not only in children, but also in adult patients with unexplained neurological symptoms. The patient was determined to be compound heterozygous for two novel missense mutations in exon 4 of the gene (c.418G>C, c.446T>G), resulting in amino acid exchanges from alanine to proline (p.Ala140Pro) and leucine to arginine (p.Leu149Arg), respectively. The mother of our patient was heterozygous for Ala140Pro, and the father heterozygous for Leu149Arg only. Mutation analysis of a healthy 49-year-old third son of the non-consanguineous parents revealed a normal exon 4. |
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Authors:
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J??rn Oliver Sass; Janet S Romrell; Sarah Y Vinson; Hubert H Fernandez; Judith Fischer; Ramon L Rodriguez; Michael S Okun |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: The International journal of neuroscience Volume: 119 ISSN: 1563-5279 ISO Abbreviation: Int. J. Neurosci. Publication Date: 2009 |
Date Detail:
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Created Date: 2009-10-29 Completed Date: 2010-01-26 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0270707 Medline TA: Int J Neurosci Country: England |
Other Details:
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Languages: eng Pagination: 2118-23 Citation Subset: IM |
Affiliation:
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Labor f??r Klinische Biochemie und Stoffwechsel, Zentrum f??r Kinder- und Jugendmedizin, Universit??tsklinikum Freiburg, Mathildenstr. 1, 79106, Freiburg, Germany. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Alcohol Oxidoreductases
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genetics* Amino Acid Sequence / genetics Amino Acid Substitution / genetics Brain / metabolism*, physiopathology Brain Diseases, Metabolic, Inborn / diagnosis, genetics*, metabolism* DNA Mutational Analysis Disability Evaluation Female Genetic Markers Genetic Predisposition to Disease / genetics Genetic Testing Glutarates / analysis, urine Humans Inheritance Patterns / genetics Magnetic Resonance Imaging Male Middle Aged Movement Disorders / diagnosis, genetics*, metabolism* Mutation, Missense / genetics Neurologic Examination |
| Chemical | |
Reg. No./Substance:
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0/Genetic Markers; 0/Glutarates; 2889-31-8/alpha-hydroxyglutarate; EC 1.1.-/Alcohol Oxidoreductases; EC 1.1.99.2/L2HGDH protein, human |
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