Essential Fatty Acid Deficiencies in Adult PKU patients on low protein diets

Clare Kreis, Gabrielle Beardwood, Barbara S Van der Meij, Janelle Nisbet, Jim McGill

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Abstract

People with PKU are at risk of essential fatty acid deficiency (EFAD) due to dietary restriction of high EFA sources in the treatment diet and inadequate supplementation in some prescribed PKU formulas. Barriers such as poor formula compliance, and periods of rapid growth can heighten the EFAD risk. This investigation aims to identify the proportion of adults with PKU who have EFAD and to detect variables that are associated with EFAD.
Retrospective pathology data was collected from 2011-2017 for adults with PKU. Results retrieved included EFA profiles, with mean blood phenylalanine from 6- and 12- months prior to EFA collection to assess compliance to the PKU treatment diet and formula. Data on age, gender, pregnancy status, anthropometry, formula type and dose were also obtained. Data was collated and analysed using Chi-square tests to identify if differences in EFAD exist across variables.
Full data sets were collected for 124 EFA samples from 51 adults with PKU. Of these EFA samples, 27% (n=33) showed one or more EFAD. Further data analysis revealed that 36.4% (n=12) of the identified EFAD were from pregnant women. Of these pregnancies 76% (n=9) were compliant with prescribed dose of PKU formula and protein restricted diet.
Despite pregnant women with PKU maintaining high compliance with low protein diet and formula, EFAD do readily exist during this rapid growth phase. This investigation stimulates identification and improved dietary management of EFAD in adults with PKU and encourages further research in this area.
Original languageEnglish
Publication statusUnpublished - 4 Sep 2018
EventBuilding Bridges: 42nd Human Genetics Society of Australasia Special Interest Group Meetings: Australasian Society for Inborn Errors of Metabolism - Sydney, Australia
Duration: 4 Aug 20187 Aug 2018
Conference number: 42nd
https://www.hgsa.org.au/about/HGSA2018-sig-meetings

Conference

ConferenceBuilding Bridges: 42nd Human Genetics Society of Australasia Special Interest Group Meetings
Abbreviated titleHGSA SIG ASIEM
CountryAustralia
CitySydney
Period4/08/187/08/18
Internet address

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    Kreis, C., Beardwood, G., Van der Meij, B. S., Nisbet, J., & McGill, J. (2018). Essential Fatty Acid Deficiencies in Adult PKU patients on low protein diets. Abstract from Building Bridges: 42nd Human Genetics Society of Australasia Special Interest Group Meetings, Sydney, Australia.