Pyruvate carboxylase deficiency: Mechanisms, mimics and anaplerosis

Molecular Genetics and Metabolism

Volumn 101, Issue 1, 2010, Pages 9-17

  Marin Valencia, Isaac ^a   Roe, Charles R ^a   Pascual, Juan M ^a  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

Author keywords

Anaplerosis; Citric acid cycle; Lactic acidosis; Pyruvate carboxylase

Indexed keywords

3 HYDROXYBUTYRIC ACID; ACETOACETIC ACID; AMINO ACID; AMMONIA; ASPARTIC ACID; BIOTIN; CHOLESTEROL; CITRIC ACID; GLUCOSE; LACTIC ACID; PYRUVATE CARBOXYLASE; PYRUVIC ACID;

AMINO ACID BLOOD LEVEL; ANAPLEROSIS; CEREBROSPINAL FLUID; CHOLESTEROL BLOOD LEVEL; CITRIC ACID CYCLE; DIET THERAPY; DISORDERS OF CARBOXYLIC ACID METABOLISM; DRUG MEGADOSE; ENZYME ASSAY; FATTY ACID OXIDATION; GLUCONEOGENESIS; GLUCOSE BLOOD LEVEL; GLUCOSE TOLERANCE TEST; HUMAN; KETOACIDOSIS; LACTATE BLOOD LEVEL; LACTIC ACIDEMIA; METABOLISM; MOLECULAR GENETICS; NEUROIMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PYRUVATE CARBOXYLASE DEFICIENCY; RESPIRATORY CHAIN; REVIEW; URINALYSIS;

EID: 77955653743     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2010.05.004     Document Type: Review

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