A neonate with an acute presentation of glutaric aciduria type II with maternal liver disease

Abstract

Maternal liver disease has been reported to be more frequent in women carrying a foetus affected by a fatty acid oxidation disorder (FAOD). We report a day three infant who presented acutely with hypoglycemia and high anion gap metabolic acidosis. The pregnancy had been complicated by maternal hypertension progressing to pre-eclampsia from 36 weeks then maternal hemolysis, elevated liver enzymes and a low platelet count (HELLP syndrome) at 38 weeks. The mother required platelet transfusions before and after delivery. A female infant, delivered by planned caesarean section, was initially well. At 48 h of life, the infant became anorexic, lethargic, tachyp-noeic and 4 h later rapidly deteriorated with hypoglycemia, hyper-ammonemia, metabolic (mainly lactic) acidosis, mild liver transaminitis, coagulopathy, hyperuricemia and uremia. She responded quickly to cessation of protein feeds and intravenous 10% dextrose/normal saline infusion. Rapid acylcarnitine analysis diagnosed glutaric aciduria type II (GAII). Intravenous fluids were continued for 48 h with a gradual increase in oral feeds with fat initially restricted to 25% of calories. Repeat acylcarnitine profile after 48 h of therapy was normal and the fat restriction is being gradually eased. The mother recovered over 5 days and her acylcarnitine profile was also normal. Conclusion: Although the association between foetal FAODs and maternal liver disease is debated by some, in this case the maternal HELLP syndrome directed the clinicians to prioritise testing for a FAOD. We cannot find aprevious publication onthe association of maternal liver disease and glutaric aciduria type II.L6298896882019-11-25 <br />