Phenylketonuriaand Diet Management
Phenylketonuriais a genetical condition that slows the protein metabolism in thebody. The condition emanates from the incomplete metabolism ofPhenylalanine Hydroxylase. The enzyme converts Phenylalanine toTyrosine. Individuals suffering from the condition require a manageddiet to cater for the low amount phe diet to control the metabolismof phenylalanine. A diet management helps in a normal braindevelopment. Kids diagnosed with early symptoms of PKU may improvetheir condition through the intake of small amounts of phe. Kimberlee, Phyllis, and Colleen (2003) provide that the metabolicprocesses in the body are dependent on phenylalanine. The genesinvolved in the metabolism are usually inactive until when acted uponby a precursor. Phe acts as a precursor for gene 1 that activatesphenylalanine hydroxylase that in turn stimulates tyrosine. Thepresence of tyrosine in the body brings gene 2 into action. It leadsto the production of other enzymes that are critical in metabolism.Kimberlee et al. (2003) provide that the absence or insufficiency ofgene 1 for an individual ailing from PKU has negative implicationsfor the conversion of phenylalanine to tyrosine. The level ofphenylalanine in the body rises (Kimberlee et al., 2003). Sandra etal. (2009) also articulate that any factor whether internal orexternal that alters the normalcy of the metabolism process affectsthe general body growth and development (Sandra et al., 2009).
Kimberlee,Phyllis, and Colleen (2003) observe that maternal PKU problem resultsfrom high blood phe levels during the pregnancy. The problem leads toflaws during birth, particularly congenital heart disease (CHD). Thestudy sought to examine approaches that can be used to prevent PKUusing Phe diet. During the study, aspects such as weight gain, diet,and blood Phe levels were examined. The components were evaluated toascertain their effects on CHD on the babies. A major difficulty thatpeople suffering from PKU have t encounter is the need to adhere to adiet with low phe. They usually take prescriptions of amino acidsupplements. Research has demonstrated that there are differences inthe levels of aptitude between patients who stick to low pheprescription than those who defy it to maintain a high level in theirbodies. Apart from the need to have a wholesome diet PKU dietobservation and management maintains normal levels of phe plasma thatis instrumental in a typical growth and mental function.
Thestudy was qualitative where the researchers sampled a group ofpregnant women. The researcher sampled 251 pregnant women. Themajority of women were recruited for the study after gettingpregnant. It was longitudinal, aimed at minimizing the Phe levels inthe blood during the pregnancy. Dietary intake and management wasused as the foundation for assessment. The researchers grouped theparticipants under Phe control of ≤600 μmol/L for 8 weeks and >600μmol/L for 8 weeks gestation. The results arising from the studywere examined alongside weight gain and dietary intake (Kimberlee,Phyllis, & Colleen, 2003).
Phe-freefood and low-protein foods were prescribed for the participants.Every week, three-day dietary records were collected and analyzedusing a software program, Amino Acid Analyzer. Monthly results,nutrient intake and weight status, and were included in a database.Further, the head circumference (HC) of the newborns was measured aswell as CHD status and pregnancy outcomes. The newborns werecategorized in the microcephaly group if the HC fell under themicrocephalic range. Swedish Reference Standards were used for birthmeasurements while the National Center for Health Statistics wereused for postnatal measurements. Statistical analysis was conductedusing the SAS/STAT Software.
Thefindings from the study indicate that weight gain was recorded forwomen with a high rate of microcephaly. Moreover, high Phe levelsresulted from poor diet. The high rate of CHD in the newborns hasbeen registered for participants who took <50% of the recommendedprotein levels. Participants with PKU got protein from medical food,highlighting that small protein intake lead to levels of minerals andvitamins. Phe is required in the body for the synthesis of proteins.It helps in the repair of worn out tissues and growth in children. Italso helps in maintaining optimal levels of blood plasma.
Individualssuffering from PKU require a regular therapy. To avoid developingsymptoms of the disease, it is imperative to acquaint children withthe importance of a healthy diet. Once they learn the behavior at anearly age, it is likely that they will perpetuate it to theiradulthood. Complying with a given diet requires not only a defineddiet but also moral support. Camfield (2004) it is important toensure that children width PKU symptoms adhere to the prescribeddiet. However, some children outgrow the behavior as they advancewith age. Individuals suffering from PKU are required to have a smallportion of natural foods coupled with adequate amounts of amino acids(Camfield, 2004).
Theprimary aim of nutritional management in PKU patients is to ensurethat the level of phe is kept at bay. When defied, it becomesdifficult to maintain a low level with the re-introduction of thediet management. Camfield is confident that the control of metabolismis possible in early childhood. When children go to school, itbecomes difficult to follow them and control their feeding habits.The outlined feeding procedure may be compromised by the children,but parents should be on the lookout to ensure that their childrenstick to the program. Poor diet management has devastating effects onindividuals. The complications include headaches, osteoporosis andspastic quadriparesis (Camfield, 2004). Camfield, however, indicatesthere is a need for more research to identify other supplements thatcan be used in the diet. It is also necessary that people besensitive about their health and get information from qualifiedmedical personnel to get information on the factors that increasesusceptibility to PKU.
Someof the ethical questions in the study include informed consent,confidentiality, and professional ethics. Informed consent requiredthe researchers to protect the rights of the participants. Byobserving the research ethics, the researchers explained thesignificance of the study to the participants. Confidentialityrequired the researchers to guard the information and details of theparticipants. By observing the professional ethics, the researchersadhered to guidelines that require respect for the participants. Assuch, they were required to follow high ethical standards inconducting the research study.
Itis appropriate to know and control the phe levels during pregnancy.In normal pregnancies, weight gain is encouraged to minimizemicrocephaly. PKU will require the use if simple and affordablemethods that people can exploit in their homes especially to takecare of children. Also, there should be unlimited access to healthservices whereby people can get credible information on the riskfactors and how to take care of those already suffering from PKU. PKUis preventable. Also, when it occurs, it is possible to manage itthrough diet management.
CamfieldCS, J. M. (2004). Optimal management of phenylketonuria: acentralized expert team is more successful than a decentralized modelof care. Journalof Pediatrics, 53–57.
KimberleeM., Phyllis B., & Colleen A., (2003). "Roleof Nutrition in Pregnancy With Phenylketonuria and Birth Defects."AmericanAcademy of Pediatrics:374-382.
Sandra,C. v., Erin, L. M., Sally, T. G., Mark, R. E., Murray, K. C., Jon, A.W., et al. (2009). Improved nutritional management of phenylketonuriaby using a diet containing glycomacropeptide compared with aminoacids. AmericanSociety for Nutrition, 1068-1072.