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


Presented By:

1,2Anita, Inwood, BaRN, GradDip, MNP, anita.inwood@health.qld.gov.au, +61415674527
1Talhee Minto, MBBS
3Doug Thomas, MBBS, FRACP
3Haseena Mohamed, MBBS, FRACP
3Lauren Swan, MBBS
1,2David Coman, MBBS, FRACPA, HGSA, MPHIL, FRACP, HGSA (clinical Geneticist),
1,3Jim McGill, MBBS(hons), FRACP, HGSA (clinical Geneticist), FRCPA (biochemical Genetics)

1Queensland Lifespan Metabolic Medicine Service, South Brisbane, Queensland, Australia
2University of Queensland, St Lucia, Queensland, Australia
3Department of Paediatric, Redlands Hospital, Redlands, Queensland, Australia

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 hypoglycaemia and high anion gap metabolic acidosis. The pregnancy had been complicated by maternal hypertension progressing to pre-eclampsia from 36 weeks then maternal haemolysis, 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 forty-eight hours of life, the infant became anorexic, lethargic, tachypnoeic and 4 hours later rapidly deteriorated with hypoglycaemia, hyperammonaemia, metabolic (mainly lactic) acidosis, mild liver transaminitis, coagulopathy, hyperuricaemia and uraemia. 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 48hrs with a gradual increase in oral feeds with fat initially restricted to 25% of calories. Repeat acylcarnitine profile after 48 hours 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 fetal FAODs and maternal liver disease is debated by some, in this case the maternal HELLP syndrome directed the clinicians to prioritize testing for a FAOD. We cannot find a previous publication on the association of maternal liver disease and glutaric aciduria type II.

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