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City Wexler / Oxford / Tokyo / / Company Wellcome Trust / Agroup / R M Brown Genetics Laboratory / HP / MacMillan / / Country United Kingdom / / Event Product Issues / / Facility Institute of Child Health / University of Oxford / PDH complex / University of London / / IndustryTerm mitochondrial energy metabolism / energy generation / energy substrates / energy / energy requirements / carboxyl / restriction site / energy metabolism / normal energy metabolism / / MedicalCondition human pyruvate dehydrogenase deficiency / microcephaly / seizures / profound lactic acidosis / pyruvate dehydrogenase Ela deficiency / ao deficiency / systemic metabolic acidosis / typical infantile spasms / fully dominant disease / severe neonatal lactic acidosis / Pyruvate dehydrogenase complex deficiency / flexion contractures / Subacute necrotizing encephalomyelopathy / fatal lactic acidosis / complete deficiency / subacute necrotizing encephalopathy / X linked disorder / hydranencephaly / Neonatal pyruvate dehydrogenase deficiency / minimal systemic acidosis / chronic neurodegenerative condition / MS / severe disease / neurometabolic disease / X linked disease / severe lactic acidosis / blindness / PDH El deficiency / oa deficiency / secondary contractures / Tada K. Thiamine responsive pyruvate dehydrogenase deficiency / intercurrent illness / PDH El ot deficiency / mental retardation / Pyruvate dehydrogenase deficiency / Prenatal diagnosis PDH deficiency / disease / pes cavus / PDH deficiency / PDH Ela deficiency / hydronephrosis / early onset neurological disease / pyruvate dehydrogenase ElIa subunit deficiency / Complete PDH deficiency / X-linked pyruvate dehydrogenase Ela subunit deficiency / Leigh's syndrome / Leigh disease / Neurological disease / ventricular septal defect / primary lactic acidosis / subacute neurodegenerative disease / chronic neurological form / lactic acidosis / profound mental retardation / dehydrogenase deficiency / pyruvate carboxylase deficiency / deficiency / metabolic disease / Early onset mitochondrial disease / X linked diseases / Syndrome / cerebral lactic acidosis / disorders / / Organization University of Oxford / Molecular / Institute of Child Health / University of London / / Person Nada Al Murani / Acta Neuropathol / Harrison JR / Willard H. Isolated / Ann N Y Acad Sci / / Position Carpenter / Matthews PM / narrow head / / Product El component / severe metabolic presentation / enzyme / / ProvinceOrState Connecticut / / Technology Genomics / antibodies / ultrasound / Cloning / MRI / spectroscopy / PDH / / SocialTag