3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency |
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| Authors: | Sutton V R O'Brien W E Clark G D Kim J Wanders R J A |
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| Affiliation: | (1) Department of Molecular and Human Genetics, USA;(2) Department of Neurology, Baylor College of Medicine, Houston, Texas;(3) Neurology, Shreveport, Louisiana, USA;(4) Laboratory of Genetic Metabolic Diseases, Department of Pediatrics and Clinical Chemistry, Academic Centre, University of Amsterdam, Amsterdam, The Netherlands |
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| Abstract: | Summary: 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. |
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