Application of Nutrition Care Process: Phenylketonuria
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Running head: NUTRITION CARE PROCESS: PHENYLKETONURIA
APPLICATION OF NUTRITION CARE PROCESS: PHENYLKETONURIA
by
ADD YOUR NAME HERE
The University of Houston
NUTR XXXX
Kevin Haubrick PhD, RD, LD, FAND
APPLICATION OF NUTRITION CARE PROCESS: PHENYLKETONURIA
by
ADD YOUR NAME HERE
The University of Houston
NUTR XXXX
Kevin Haubrick PhD, RD, LD, FAND
NUTRITION CARE PROCESS: PHENYLKETONURIA
Question #1: Tandem mass spectrometry is the recommended screening procedure for
PKU. The procedures comprises of drawing small amount of blood from the heel of a
newborn, and then using multiple assays simultaneously to screen the sample for over 30
different IEM. This screening procedure is also cost effective and upon receiving positive
results, there is a need to administer further diagnostic heel blood tests specific to PKU to
further confirm its presence (Nelms & Sucher, 2015).
Question #2: Phenylketonuria (PKU) is an inborn error of metabolism (IEM),
characterized by hindrances in the metabolism of the phenylalanine, an amino acid,
resulting in its excessive accumulation in the body due to a mutated phenylalanine
hydroxylase (PAH gene) and hence associated deficiencies in PAH enzyme (Al Hafid &
Christodoulou, 2015). If left untreated, such IEM can result in long term, negative health
outcomes such as impaired cognitive functioning, organ damage and death. Lack of
timely treatment of PKU can also result in intellectual and behavioral disabilities. Timely
screening of PKU, within 24 to 48 hours with the onset of birth, is necessary to prevent
the toxic accumulation of phenylalanine, administered comprehensive and immediate
treatment and prevent the above life threatening complications (Nelms & Sucher, 2015).
Question #5: If left untreated, PKU can result in long term complications in terms of
neurological symptoms such as delays in achieving developmental milestones leading to
the child facing possible risk of acquiring disorders in behavior, cognition, thinking and
learning. Further, the gastrointestinal symptoms of PKU such as diarrhea, vomiting and
refluxes resulting in long terms complications such as feeding problems, poor food intake
and hence, inadequate nutritional status and impairments in growth (Saad et al., 2015).
Further symptoms of lethargy in PKU, can result in long term impacts such as coma, if
2
Question #1: Tandem mass spectrometry is the recommended screening procedure for
PKU. The procedures comprises of drawing small amount of blood from the heel of a
newborn, and then using multiple assays simultaneously to screen the sample for over 30
different IEM. This screening procedure is also cost effective and upon receiving positive
results, there is a need to administer further diagnostic heel blood tests specific to PKU to
further confirm its presence (Nelms & Sucher, 2015).
Question #2: Phenylketonuria (PKU) is an inborn error of metabolism (IEM),
characterized by hindrances in the metabolism of the phenylalanine, an amino acid,
resulting in its excessive accumulation in the body due to a mutated phenylalanine
hydroxylase (PAH gene) and hence associated deficiencies in PAH enzyme (Al Hafid &
Christodoulou, 2015). If left untreated, such IEM can result in long term, negative health
outcomes such as impaired cognitive functioning, organ damage and death. Lack of
timely treatment of PKU can also result in intellectual and behavioral disabilities. Timely
screening of PKU, within 24 to 48 hours with the onset of birth, is necessary to prevent
the toxic accumulation of phenylalanine, administered comprehensive and immediate
treatment and prevent the above life threatening complications (Nelms & Sucher, 2015).
Question #5: If left untreated, PKU can result in long term complications in terms of
neurological symptoms such as delays in achieving developmental milestones leading to
the child facing possible risk of acquiring disorders in behavior, cognition, thinking and
learning. Further, the gastrointestinal symptoms of PKU such as diarrhea, vomiting and
refluxes resulting in long terms complications such as feeding problems, poor food intake
and hence, inadequate nutritional status and impairments in growth (Saad et al., 2015).
Further symptoms of lethargy in PKU, can result in long term impacts such as coma, if
2
NUTRITION CARE PROCESS: PHENYLKETONURIA
left untreated. Additional long term complications include multiple organ failure in terms
of hepatic dysfunction, cardiomyopathy and musculoskeletal disorders such as arthritis
(Nelms & Sucher, 2015).
Question #7: The concerned child will have a diet with protein needs 25 to 30% higher as
compared to the normal Dietary Reference Intake (DRI), since a majority of the proteins
provided will comprise of supplements and synthetic sources. Further, as the child grows,
her diet will alter resulting in reductions in intake of amino acid and proteins, since the
rate or velocity of her growth will decrease. Further, musculoskeletal complications in
terms of hypotonia and arthritis, will reduce physical activity and hence, may need to
administer a diet with reduced calorie needs as compared to the DRIs (Nelms & Sucher,
2015). However, considering long term risks of impaired fetal growth and muscle
wastage due to catabolism, there may be need to incorporate adequate protein keeping in
mind intolerances associated with phenylalanine. Considering the same, the patient as she
grows, may be treated with Sapropterin dihydrochloride – a synthetic tetrahydrobiopterin
which assists in facilitation and stabilization of PAH into its active forms, by acting upon
PAH (Balaji et al., 2016). Further, to facilitate her growth and development as a child and
adult, she will be required to increase her phenylalanine, protein and calorie intake to
200-700 mg/day, 30-40 gm/day and 1300-2400 kcal/day (Nelms & Sucher, 2015).
Question #8: From the given results, it can be observed that patient has excessively high
levels of phenylalanine and low levels of tyrosine in the blood as compared to normal
levels, which can be diagnosed as hyperphenylalaninemia and hypotyrosinemia.
Hyperphenylalaniemia is etiologically caused due to high accumulation of phenylalanine
in the blood as a result of its decreased metabolism due to PKU (Burton et al., 2018). The
3
left untreated. Additional long term complications include multiple organ failure in terms
of hepatic dysfunction, cardiomyopathy and musculoskeletal disorders such as arthritis
(Nelms & Sucher, 2015).
Question #7: The concerned child will have a diet with protein needs 25 to 30% higher as
compared to the normal Dietary Reference Intake (DRI), since a majority of the proteins
provided will comprise of supplements and synthetic sources. Further, as the child grows,
her diet will alter resulting in reductions in intake of amino acid and proteins, since the
rate or velocity of her growth will decrease. Further, musculoskeletal complications in
terms of hypotonia and arthritis, will reduce physical activity and hence, may need to
administer a diet with reduced calorie needs as compared to the DRIs (Nelms & Sucher,
2015). However, considering long term risks of impaired fetal growth and muscle
wastage due to catabolism, there may be need to incorporate adequate protein keeping in
mind intolerances associated with phenylalanine. Considering the same, the patient as she
grows, may be treated with Sapropterin dihydrochloride – a synthetic tetrahydrobiopterin
which assists in facilitation and stabilization of PAH into its active forms, by acting upon
PAH (Balaji et al., 2016). Further, to facilitate her growth and development as a child and
adult, she will be required to increase her phenylalanine, protein and calorie intake to
200-700 mg/day, 30-40 gm/day and 1300-2400 kcal/day (Nelms & Sucher, 2015).
Question #8: From the given results, it can be observed that patient has excessively high
levels of phenylalanine and low levels of tyrosine in the blood as compared to normal
levels, which can be diagnosed as hyperphenylalaninemia and hypotyrosinemia.
Hyperphenylalaniemia is etiologically caused due to high accumulation of phenylalanine
in the blood as a result of its decreased metabolism due to PKU (Burton et al., 2018). The
3
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