Unsuccessful treatment of severe pyruvate carboxylase deficiency with triheptanoin

European Journal of Pediatrics

Volumn 173, Issue 3, 2014, Pages 361-366

  Breen, C ^a   White, F J ^a   Scott, C A B ^a   Heptinstall, L ^a   Walter, J H ^a   Jones, S A ^a   Morris, A A M ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Anaplerotic therapy; Pyruvate carboxylase deficiency; Triheptanoin

Indexed keywords

ACETYL COENZYME A; ALANINE; AMMONIA; ARGININE ASPARTATE; ASPARTIC ACID; BICARBONATE; CITRIC ACID; CITRULLINE; DICHLOROACETIC ACID; GLUCOSE; GLUTAMINE; KETONE BODY; LACTIC ACID; PROPIONYL COENZYME A; PROPIONYL COENZYME A CARBOXYLASE; PYRUVATE CARBOXYLASE; TRIHEPTANOIN; TRIACYLGLYCEROL;

AMMONIA BLOOD LEVEL; ARTICLE; AUTOPSY; BRAIN VENTRICLE DILATATION; CALORIC INTAKE; CAPSULA INTERNA; CASE REPORT; CEREBROSPINAL FLUID LEVEL; DEVELOPMENTAL DISORDER; DISEASE COURSE; DISEASE SEVERITY; DRUG TOLERABILITY; DRUG TREATMENT FAILURE; EYE MOVEMENT DISORDER; FATTY ACID OXIDATION; FEMALE; GASTROINTESTINAL SYMPTOM; GLUCOSE BLOOD LEVEL; HEAD CIRCUMFERENCE; HEARING IMPAIRMENT; HUMAN; HYPERAMMONEMIA; HYPERNATREMIA; HYPERVOLEMIA; INFANT; KETOACIDOSIS; KIDNEY TUBULE ACIDOSIS; LACTATE BLOOD LEVEL; LACTIC ACIDOSIS; METABOLIC ACIDOSIS; MOLECULAR GENETICS; NEUROLOGIC DISEASE; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; RESPIRATORY FAILURE; SEIZURE; SKIN FIBROBLAST; SODIUM LOAD; STOP CODON; TACHYPNEA; VEIN THROMBOSIS; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE; TREATMENT OUTCOME;

FEMALE; HUMANS; INFANT, NEWBORN; PYRUVATE CARBOXYLASE DEFICIENCY DISEASE; TREATMENT OUTCOME; TRIGLYCERIDES;

EID: 84896853110     PISSN: 03406199     EISSN: 14321076     Source Type: Journal    
DOI: 10.1007/s00431-013-2166-5     Document Type: Article

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