A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1
Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macro...
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| Format: | Article |
| Language: | English |
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Wiley
2014-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2014/256356 |
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| author | S. Pusti N. Das K. Nayek S. Biswas |
| author_facet | S. Pusti N. Das K. Nayek S. Biswas |
| author_sort | S. Pusti |
| collection | DOAJ |
| description | Glutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1. |
| format | Article |
| id | doaj-art-97feb3f4902d4552844f4dc9854d2653 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2014-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-97feb3f4902d4552844f4dc9854d26532025-02-03T05:45:55ZengWileyCase Reports in Pediatrics2090-68032090-68112014-01-01201410.1155/2014/256356256356A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1S. Pusti0N. Das1K. Nayek2S. Biswas3Department of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, IndiaDepartment of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, IndiaDepartment of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, IndiaDepartment of Paediatrics, R. G. Kar Medical College and Hospital, Khudiram Bose Sarani, Kolkata, West Bengal 700004, IndiaGlutaric aciduria type 1 (GA-1) is an autosomal recessive disorder of lysine, hydroxylysine, and tryptophan metabolism caused by deficiency of glutaryl-CoA dehydrogenase. It results in the accumulation of 3-hydroxyglutaric and glutaric acid. Affected patients can present with brain atrophy and macrocephaly and with acute dystonia secondary to striatal degeneration in most cases triggered by an intercurrent childhood infection with fever between 6 and 18 months of age. We report two such cases with macrocephaly, typical MRI pictures, and tandem mass spectrometry suggestive of glutaric aciduria type 1.http://dx.doi.org/10.1155/2014/256356 |
| spellingShingle | S. Pusti N. Das K. Nayek S. Biswas A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 Case Reports in Pediatrics |
| title | A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 |
| title_full | A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 |
| title_fullStr | A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 |
| title_full_unstemmed | A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 |
| title_short | A Treatable Neurometabolic Disorder: Glutaric Aciduria Type 1 |
| title_sort | treatable neurometabolic disorder glutaric aciduria type 1 |
| url | http://dx.doi.org/10.1155/2014/256356 |
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