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
Hauptverfasser:	Sutton, V. R., O'Brien, W. E., Clark, G. D., Kim, J., Wanders, R. J. A.
Format:	Artikel
Sprache:	eng
Schlagworte:	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
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Zusammenfassung:	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.
ISSN:	0141-8955 1573-2665
DOI:	10.1023/A:1024083715568