3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency
A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3‐hydroxy‐2‐methylbutyric acid and tiglyglycine; 3‐ketothiolase enzyme activity was normal and he was subsequently fo...
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| Veröffentlicht in: | Journal of inherited metabolic disease 2003-07, Vol.26 (1), p.69-71 |
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| container_end_page | 71 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 26 |
| creator | Sutton, V. R. O'Brien, W. E. Clark, G. D. Kim, J. Wanders, R. J. A. |
| description | A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3‐hydroxy‐2‐methylbutyric acid and tiglyglycine; 3‐ketothiolase enzyme activity was normal and he was subsequently found to have 3‐hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency. |
| doi_str_mv | 10.1023/A:1024083715568 |
| format | Article |
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R.</au><au>O'Brien, W. E.</au><au>Clark, G. D.</au><au>Kim, J.</au><au>Wanders, R. J. A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2003-07</date><risdate>2003</risdate><volume>26</volume><issue>1</issue><spage>69</spage><epage>71</epage><pages>69-71</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>A boy now 8 years old presented at 21 months of age with developmental arrest, followed by regression, cortical blindness and myoclonic seizures. Urine organic acid analysis revealed 3‐hydroxy‐2‐methylbutyric acid and tiglyglycine; 3‐ketothiolase enzyme activity was normal and he was subsequently found to have 3‐hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>12872843</pmid><doi>10.1023/A:1024083715568</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SpringerLink Journals - AutoHoldings |
| subjects | 3-Hydroxyacyl CoA Dehydrogenases Acids - urine Alcohol Oxidoreductases - deficiency Alcohol Oxidoreductases - genetics Biological and medical sciences Blindness, Cortical - genetics Blindness, Cortical - pathology Developmental Disabilities - genetics Developmental Disabilities - pathology Diet, Protein-Restricted Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - pathology Errors of metabolism Humans Infant Isoleucine - metabolism Male Medical sciences Metabolic diseases Metabolism, Inborn Errors - diet therapy Metabolism, Inborn Errors - genetics Miscellaneous hereditary metabolic disorders |
| title | 3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency |
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