Maternal PKU: Defining phenylalanine tolerance and its variation during pregnancy, according to genetic background
| Autor: | Ilaria Bettocchi, Giulio Marchesini, Alessandra Cassio, Sara Cataldi, Lucia Brodosi, Maria Letizia Petroni, Federico Baronio, Maria Turchese Caletti |
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| Přispěvatelé: | Caletti M.T., Bettocchi I., Baronio F., Brodosi L., Cataldi S., Petroni M.L., Cassio A., Marchesini G. |
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
Adult
Heart Defects Congenital Pediatrics medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Phenylketonuria Maternal Genotype Endocrinology Diabetes and Metabolism Phenylalanine Dietary control Medicine (miscellaneous) 030209 endocrinology & metabolism 030204 cardiovascular system & hematology Body weight 03 medical and health sciences Solitary Kidney Young Adult 0302 clinical medicine Hyperphenylalaninemia Risk Factors Pregnancy medicine Diet Protein-Restricted MATERNAL PKU Humans Genetic Predisposition to Disease Nutrition and Dietetics Fetal Growth Retardation business.industry Dietary intake Risk Factor nutritional and metabolic diseases Phenylalanine Hydroxylase medicine.disease Gestational Weight Gain Phenotype Treatment Outcome Metabolic phenotype Female Cardiology and Cardiovascular Medicine business Live Birth Human |
| Popis: | Background and aims Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance. We report our experience with maternal PKU in relation to genotype PKU heterogeneity. Methods and Results A total of 10 pregnancies in 7 PKU women (7 different genotypes) were followed up as part of personalized care. Phe tolerance during preconception and pregnancy was assessed by strict dietary control and weekly Phe measurement (blood spots) in relation to genotype. Most women had stopped PKU diet during childhood or adolescence and six pregnancies were unplanned; a phenylalanine-restricted diet was reinstituted soon after conception. Women were classified according to their Phe levels at birth screening and genotype. Phe tolerance increased systematically in the course of pregnancy in all cases, but the increase was different in subjects with classic PKU (cPKU) when compared with cases with mild hyperphenylalaninemia (mHPA), both on average (+297 mg/day in cPKU vs. 597 in mHPA; P = 0.017) and as percentage (+107% in cPKU vs. +17% in mHPA). Notably, Phe tolerance also varied in the same women in the course of different pregnancies, when body weight gain was also different. Two newborns from the same cPKU mother (unplanned pregnancies on free diet) were affected by congenital alterations. Conclusions Several factors influence metabolic phenotype in maternal PKU, to an unpredictable extent even in the same woman. The number of maternal PKU cases is growing in dedicated Nutrition Units, and the burden associated with careful management of this condition for the health care system should be adequately considered. |
| Databáze: | OpenAIRE |
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