Pyruvate carboxylase deficiency
- 1 March 1984
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 7 (S1) , 74-78
- https://doi.org/10.1007/bf03047379
Abstract
The causes of congenital lactic acidaemia are outlined. Isolated pyruvate carboxylase deficiency is reviewed in detail with a report of a recent case and a discussion of the biochemical consequences. Other causes of defective pyruvate carboxylation are described, particularly the combined carboxylase defects.Keywords
This publication has 39 references indexed in Scilit:
- The specific inhibition of the pyruvate dehydrogenase complex from pig kidney by propionyl-CoA and isovaleryl-CoAPublished by Elsevier ,2004
- Deficient Biotinidase Activity in Late-Onset Multiple Carboxylase DeficiencyNew England Journal of Medicine, 1983
- MECHANISM OF BIOTIN-RESPONSIVE COMBINED CARBOXYLASE DEFICIENCYThe Lancet, 1982
- STUDIES ON PYRUVATE CARBOXYLASE, PYRUVATE DECARBOXYLASE AND LIPOAMIDE DEHYDROGENASE IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHYActa Paediatrica, 1982
- ANTENATAL DIAGNOSIS OF PYRUVATE-CARBOXYLASE DEFICIENCYThe Lancet, 1981
- Inherited disorders of 3-methylcrotonyl CoA carboxylation.Archives of Disease in Childhood, 1981
- A combined defect of three mitochondrial carboxylases presenting as biotin-responsive 3-methylcrotonyl glycinuria and 3-hydroxyisovaleric aciduriaClinica Chimica Acta; International Journal of Clinical Chemistry, 1980
- Pyruvate Carboxylase: An Evaluation of the Relationships Between Structure and Mechanism and Between Structure and Catalytic ActivityPublished by Wiley ,1975
- Hyperalaninemia with Pyruvicemia in a Patient Suggestive of Leigh's EncephalomyelopathyThe Tohoku Journal of Experimental Medicine, 1973
- The sodium activation of biotin absorption in hamster small intestine in vitroBiochimica et Biophysica Acta (BBA) - Biomembranes, 1972