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Phenylketonuria
Phenylketonuria (PKU) is an autosomal recessive disorder caused by mutation of PAH gene (Braun & Anderson, 2017). PKU irises when there is a deficiency phenylalanine hydroxylase (PAH) enzyme which impairs the body’s ability to metabolize phenylalanine, an essential amino acid. Deficiency of PAH leads to marked accumulation of phenylalanine in the body fluids and inability to convert phenylalanine into tyrosine, which is needed for the synthesis of proteins, thyroxine, catecholamines and, melanin (Braun & Anderson, 2017). Subtle neuropsychological deficits can result of neurotransmitters as a results of deficient tyrosine transport across the neural cell membrane. This affects the cognitive function hence patience with PKU almost always have intellectual disability unless it is controlled by diet or drugs. It also leads to impairment of melanin synthesis results in fair skin and hair and hypopigmentation of the eye. Patients often have a musty odor and about half are also diagnosed with seizure disorder (Braun & Anderson, 2017).
Diagnosis often occurs at birth because of routine metabolic screen (Braun & Anderson, 2017). PKU often is not detected in places where do not carry any screening unless a person has severe developmental intellectual disability occur. Patients with PKU require specialty care. The condition is treated with lifetime dietary management, avoiding phenylalanine, and adding amino acids, vitamin, and mineral supplements. Pharmacological therapy with sapropterin dihydrochloride , may support phenylalanine metabolism in some patients. Food restrictions include food high in protein and starch. Patients with PKU obtain proteins from medical foods and those found in specially formulated protein powders. Prognosis is always excellent when patients continue a diet low in phenylalanine.
Functional fecal incontinence
Functional fecal incontinence is a condition of repetitive, voluntary, or involuntary passage of stool in inappropriate places in people older than four years (Braun & Anderson, 2017). It can be classified as retentive or non-retentive. It is often associated with constipation. Key development triggers are associated with development of functional fecal incontinence including introduction to solid food, toilet training, and start of school attendance. Constipation may result from the change of diet and in older children the stress associate with defecation the stress associated with defection that leads to voluntary retention amplifying the problem of constipation. Symptoms based diagnostic classification known as Rome 3 criteria help recognize and treat defection and other gastrointestinal disorders. The retentive form of functional fecal mass in the rector history of passing a large diameter stool. The factors associated with functional fecal incontinence are absent in non-retentive form and include social context inappropriate for defection, absence of underlying disorders of motility function, absence of excessive stool and fecal retention, symptom frequency at least once per month and duration of at least two months (Braun & Anderson, 2017).
It is important to identify characteristics of incontinence when diagnosing the disease (Braun & Anderson, 2017). History of incontinence is examined including stool pattern, evidence of constipation, factors related to defection episodes, diet history, associated pain, current medication, associated urinary symptoms, family history of constipation and emotional stress. When treating, behaviors contributing to toilet-refusal behavior should be addressed and strategies should be used to promote positive, more enjoyable toileting experiences. Methods promoting soft stool minimize discomfort during defecation helps individuals to overcome pain associated with bowel movement. Scheduling time for toilet and creating a relaxed atmosphere helps with toileting too. Mental health must be analyst to explore roots of oppositional and defiant behaviors must be considered (Braun & Anderson, 2017).
References
Braun, C. A., & Anderson, C. M. (2017). Applied pathophysiology: https://thepoint.lww.com/Book/Show/993500#/about-this-product?groupby=learningactivity&ts=1631720455018
