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  • Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.

Biochemical and histologic pathology in an infant with cross-reacting material (negative) pyruvate carboxylase deficiency.

Pediatric research (1986-03-01)
L T Wong, A G Davidson, D A Applegarth, J E Dimmick, M G Norman, J R Toone, G Pirie, J Wong
ABSTRACT

An infant with the acute neonatal form of pyruvate carboxylase deficiency (cross-reacting material negative) presented with severe intractable lactic acidosis within 4 h after birth. He also had hyperammonemia, hypercitrullinemia, and hyperlysinemia. Plasma glutamine was not elevated. He had a rapidly deteriorating clinical course with severe liver dysfunction, repeated septicemia and seizures; he was comatose and was on a ventilator throughout; death occurred at 8 wk of age. Skin fibroblast study confirmed the enzyme deficiency. Detailed biochemical parameters and histopathology of the brain and liver are presented. The evidence from this infant suggests that disturbances of intracellular oxaloacetate levels as a result of the primary enzyme defect might also contribute to deficiency in ATP generation which may explain the various other biochemical changes and liver pathology.

MATERIALS
Product Number
Brand
Product Description

Sigma-Aldrich
Oxaloacetic acid, powder, suitable for hybridoma
Sigma-Aldrich
Oxaloacetic acid, powder, BioReagent, suitable for cell culture, suitable for insect cell culture, ≥97% (HPLC)
Sigma-Aldrich
Oxaloacetic acid, ≥97% (HPLC)