title: [Enzymopathic congenital hyperlactacidemia].
abstract: Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymopathies which affect the pyruvate junction and the Krebs cycle, may be manifested in addition by: --either chronic neuropathies, e.g. Leigh's disease, recurrent ataxia, and moderate hyperalactacidemia,--or, as in congenital lactic acidoses, which have a rapid and severe prognosis with major hyperlactacidemia. Functional investigation, in particular, loading tests are of great value in orientation and justify the practice of tissue biopsy which permits the enzyme diagnosis. Recent, still unconfirmed knowledge of the pathogenesis of these diseases emphasizes the considerable importance of estimation of blood lactic acid in the investigation of metabolic acidoses of hereditary origin.
mesh_terms: D000138:Acidosis / Q000235:genetics; D001259:Ataxia / Q000235:genetics; D001933:Brain Stem; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis; D002952:Citric Acid Cycle; D004678:Encephalomalacia / Q000378:metabolism; D015319:Fructose-1,6-Diphosphatase Deficiency; D005947:Glucose / Q000096:biosynthesis; D006003:Glycogen / Q000096:biosynthesis; D005953:Glycogen Storage Disease Type I / Q000378:metabolism; D006006:Glycogen Synthase / Q000172:deficiency*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000378:metabolism; D007773:Lactates / Q000097:blood*; D010729:Phosphoenolpyruvate Carboxykinase (GTP) / Q000172:deficiency*; D011596:Psychomotor Disorders / Q000378:metabolism; D015324:Pyruvate Carboxylase Deficiency Disease; D015325:Pyruvate Dehydrogenase Complex Deficiency Disease; D011773:Pyruvates / Q000378:metabolism*
chemical_list: D007773:Lactates; D011773:Pyruvates; D006003:Glycogen; D006006:Glycogen Synthase; D010729:Phosphoenolpyruvate Carboxykinase (GTP); D005947:Glucose
vernacular_title: Hyperlactacidémies congénitales enzymopathiques