title: A practical approach to maternal phenylketonuria management.
abstract: More women with phenylketonuria are becoming pregnant and need appropriate management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism, microcephaly, growth retardation, developmental delay and congenital heart disease. Here we describe our experiences from a single centre gained over almost three decades. A series of six cases is presented to illustrate key points in management. Ideally, phenylalanine-restricted diet is started before conception in a planned fashion, but some women present pregnant and blood phenylalanine must be lowered rapidly. The aims of management are to maintain blood phenylalanine concentration in the target range (100-250 micromol/L) before and throughout the pregnancy, and to ensure adequate maternal nutrition and appropriate weight gain. Blood phenylalanine is monitored twice, three times a week, before and after conception respectively. Weight is monitored on a weekly basis and key micronutrients are monitored every 6-8 weeks in clinic. From the second trimester onwards, dietary phenylalanine intake has to be promptly increased, as phenylalanine tolerance increases rapidly. Postnatal management includes a neurological assessment of the infant at 4-8 weeks and an echocardiogram for infants conceived off diet. Subsequently, offspring are seen at 1 year, 4 years, 8 years and 14 years for neuropsychometric evaluations. Regular follow-up of the mother remains important whether on or off a phenylalanine-restricted diet.
authors.affiliation: Charles Dent Metabolic Unit, The National Hospital for Neurology and Neurosurgery, London, UK. francois.maillot@uclh.nhs.uk
authors.forename: F
authors.initials: F
authors.lastname: Maillot
authors.forename: P
authors.initials: P
authors.lastname: Cook
authors.forename: M
authors.initials: M
authors.lastname: Lilburn
authors.forename: P J
authors.initials: PJ
authors.lastname: Lee
mesh_terms: D002648:Child; D002654:Child Care; D005260:Female; D006801:Humans; D007223:Infant; D007224:Infant Care; D007231:Infant, Newborn; D017042:Phenylketonuria, Maternal / Q000178:diet therapy / Q000628:therapy*; D011181:Postnatal Care; D016742:Preconception Care; D011247:Pregnancy; D011295:Prenatal Care