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Pyruvate‐Carboxylase Deficiency with Urea Cycle Impairment
Author(s) -
GRETER J.,
GUSTAFSSON J.,
HOLME E.
Publication year - 1985
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1985.tb10073.x
Subject(s) - medicine , urea cycle , pyruvate carboxylase , urea , endocrinology , biochemistry , enzyme , chemistry , amino acid , arginine
.We report a case of pyruvate‐carboxylase deficiency (EC 6.4.1.1, McKusick 26615) with neonatal onset of lactic acidosis, hyperammonemia, and citrullinemia. The patient developed signs of severe liver damage and died at 13 days of age after increasing metabolic acidosis and severe bleedings. The pyruvate‐carboxylase activity in fibroblasts was less than 1% of controls, but normal activities of propionyl‐CoA carboxylase (EC 6.4.1.3) and 3‐methylcrotonyl‐CoA carboxylase (EC 6.4.1.4) were found. To prepare for early prenatal diagnosis of pyruvate‐carboxylase deficiency, the activity of the enzyme has been measured in chorionic villus samples