Premium
Neonatal lactic acidosis with pyruvate carboxylase inactivity
Author(s) -
Vidailhet M.,
Lefebvre E.,
Beley G.,
Marsac C.
Publication year - 1981
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf02263625
Subject(s) - pyruvate carboxylase , lactic acidosis , acidosis , pyruvate dehydrogenase complex , biochemistry , metabolite , endocrinology , medicine , biology , chemistry , enzyme
Biochemical findings in a case of acute onset lactic acidosis due to pyruvate carboxylase deficiency are presented. Oxaloacetate deficiency arising from the inactivity of pyruvate carboxylase produces abnormal cytosolic and mitochondrial redox states. The resultant altered metabolite pattern may allow a provisional diagnosis before enzymatic studies.