1. Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency
- Author
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Helmut Niederhoff, Matthias Brandis, Willy Lehnert, Jos P.N. Ruiter, Regina Ensenauer, K Otfried Schwab, Ronald J.A. Wanders, Paediatric Metabolic Diseases, and Laboratory Genetic Metabolic Diseases
- Subjects
Male ,medicine.medical_specialty ,Urinary system ,Metabolite ,Biology ,HSD17B10 ,chemistry.chemical_compound ,Degenerative disease ,Internal medicine ,medicine ,Humans ,Isoleucine ,Child ,Amino Acid Metabolism, Inborn Errors ,chemistry.chemical_classification ,Psychomotor retardation ,3-Hydroxyacyl CoA Dehydrogenases ,medicine.disease ,Phenotype ,Alcohol Oxidoreductases ,Enzyme ,Endocrinology ,Neurology ,3-Hydroxy-2-methylbutyryl-CoA dehydrogenase ,chemistry ,Female ,Neurology (clinical) ,medicine.symptom - Abstract
We report the identification of two new 7-year-old patients with 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency, a recently described inborn error of isoleucine metabolism. The defect is localized one step above 3-ketothiolase, resulting in a urinary metabolite pattern similar to that seen for deficiency of the latter. One patient has progressive neurodegenerative symptoms, whereas the clinical phenotype of the other patient is characterized by psychomotor retardation without loss of developmental milestones. A short-term biochemical response to an isoleucine-restricted diet was observed in both children.
- Published
- 2002
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