Journal of Inherited Metabolic Disease · 2003 · 34 citations · 2 references
Life SciencesBiochemistryPediatricsDevelopmental PediatricsEnzymologyPediatric NeurologyDevelopmental EncephalopathiesEnzyme DeficienciesInborn Errors Of MetabolismMetabolic EpilepsiesMetabolic Pathway DefectsNeurodevelopmental DisordersEnzyme ActivityEnzyme Deficiency DisordersEnzyme Deficiency In Amino Acid MetabolismMyoclonic SeizuresOrganic Acid AnalysisOrganic Acid DisordersOrganic AcidemiasSeizures
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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Johannes Zschocke, Jos P.N. Ruiter, Jochen Brand et al. · Pediatric Research · 2000 · 115 citations · Full text
Clinical variability in 3‐hydroxy‐2‐methylbutyryl‐coa dehydrogenase deficiency
Regina Ensenauer, H. Niederhoff, Jos P.N. Ruiter et al. · Annals of Neurology · 2002 · 54 citations