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Questions and Answers
What is the target range for phenylalanine levels in dietary treatment for individuals with PKU at the age of 12 years?
What is the target range for phenylalanine levels in dietary treatment for individuals with PKU at the age of 12 years?
Which component of dietary management for PKU involves controlling the intake of natural protein?
Which component of dietary management for PKU involves controlling the intake of natural protein?
What type of protein source is used in the synthetic amino acid mixture for dietary treatment of PKU?
What type of protein source is used in the synthetic amino acid mixture for dietary treatment of PKU?
Which of the following practices is NOT advisable for individuals following a PKU dietary management plan?
Which of the following practices is NOT advisable for individuals following a PKU dietary management plan?
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During dietary management for PKU, which type of food should be avoided due to its phenylalanine content?
During dietary management for PKU, which type of food should be avoided due to its phenylalanine content?
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What is the primary objective of dietary treatment for individuals with PKU?
What is the primary objective of dietary treatment for individuals with PKU?
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For effective dietary management of PKU, how should the consumption of free foods be balanced?
For effective dietary management of PKU, how should the consumption of free foods be balanced?
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What is a common misconception about dietary treatment for PKU regarding the use of sweeteners?
What is a common misconception about dietary treatment for PKU regarding the use of sweeteners?
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What is the primary purpose of the Heel Prick Test?
What is the primary purpose of the Heel Prick Test?
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What is a characteristic feature of autosomal recessive genetic disorders?
What is a characteristic feature of autosomal recessive genetic disorders?
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Which food sources are primarily recognized for providing carbohydrates?
Which food sources are primarily recognized for providing carbohydrates?
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Why are essential amino acids critical for human health?
Why are essential amino acids critical for human health?
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Which macronutrient is incorrectly matched with its primary function?
Which macronutrient is incorrectly matched with its primary function?
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What role do amino acids play in the body aside from forming proteins?
What role do amino acids play in the body aside from forming proteins?
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How much possibility is there for an affected child of having the condition in an autosomal recessive inheritance scenario?
How much possibility is there for an affected child of having the condition in an autosomal recessive inheritance scenario?
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Which of the following statements about the consumption of essential amino acids is true?
Which of the following statements about the consumption of essential amino acids is true?
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What is the primary treatment for galactosaemia?
What is the primary treatment for galactosaemia?
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What is the incidence of galactosaemia among infants born to Traveller parents?
What is the incidence of galactosaemia among infants born to Traveller parents?
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Which of the following is NOT a sign or symptom of galactosaemia?
Which of the following is NOT a sign or symptom of galactosaemia?
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What diagnostic test is performed to detect enzyme activity for galactosaemia?
What diagnostic test is performed to detect enzyme activity for galactosaemia?
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What is the risk associated with untreated galactose accumulation?
What is the risk associated with untreated galactose accumulation?
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Which nutritional product should be strictly avoided in the diet of a galactosaemia patient?
Which nutritional product should be strictly avoided in the diet of a galactosaemia patient?
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What other form of care is crucial alongside the dietary management of galactosaemia?
What other form of care is crucial alongside the dietary management of galactosaemia?
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When is the Beutler Test recommended to be performed for at-risk infants?
When is the Beutler Test recommended to be performed for at-risk infants?
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What is the primary function of mucopolysaccharides in the body?
What is the primary function of mucopolysaccharides in the body?
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Which of the following statements about nutritional support in metabolic clinics is accurate?
Which of the following statements about nutritional support in metabolic clinics is accurate?
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What does the term 'muco' in mucopolysaccharides refer to?
What does the term 'muco' in mucopolysaccharides refer to?
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Which lysosomal storage disorder has the highest prevalence according to the data provided?
Which lysosomal storage disorder has the highest prevalence according to the data provided?
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Which of the following are general signs and symptoms of mucopolysaccharide diseases?
Which of the following are general signs and symptoms of mucopolysaccharide diseases?
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What is an example of a multidisciplinary support function mentioned in the context of metabolic disorders?
What is an example of a multidisciplinary support function mentioned in the context of metabolic disorders?
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Which of the following conditions is associated with dysostosis multiplex?
Which of the following conditions is associated with dysostosis multiplex?
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In the context of nutritional support, what is dextrose primarily used for?
In the context of nutritional support, what is dextrose primarily used for?
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What is a common cardiovascular issue referenced in the symptoms of mucopolysaccharide diseases?
What is a common cardiovascular issue referenced in the symptoms of mucopolysaccharide diseases?
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What percentage of individuals are affected by Sanfilippo A according to the data?
What percentage of individuals are affected by Sanfilippo A according to the data?
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What is a potential complication of phenylketonuria if dietary restrictions are not followed?
What is a potential complication of phenylketonuria if dietary restrictions are not followed?
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Which of the following is a characteristic of inborn errors of metabolism?
Which of the following is a characteristic of inborn errors of metabolism?
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What is a primary objective in the management of metabolic disorders?
What is a primary objective in the management of metabolic disorders?
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In what aspect does glycogen storage disease primarily affect metabolic processes?
In what aspect does glycogen storage disease primarily affect metabolic processes?
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Which of the following best describes the management strategies for children with inborn errors of metabolism?
Which of the following best describes the management strategies for children with inborn errors of metabolism?
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Which condition is most likely to require lifelong dietary management?
Which condition is most likely to require lifelong dietary management?
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What is a critical factor in early detection of metabolic disorders in newborns?
What is a critical factor in early detection of metabolic disorders in newborns?
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The pathophysiology of inborn errors of metabolism often involves defects in what biological component?
The pathophysiology of inborn errors of metabolism often involves defects in what biological component?
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Study Notes
Heel Prick Test
- All newborn babies in Ireland are screened for six rare conditions via the Heel Prick Test
- The Heel Prick Test involves taking a small blood sample from the baby's heel
- The screening ensures that any babies with rare conditions are identified and treated as early as possible
Autosomal Recessive Genetic Disorders
- A child affected with an autosomal recessive genetic disorder has two parents who carry the recessive gene
- Unaffected siblings may still carry the recessive gene
- Each pregnancy has a 25% chance of having a child with the condition
Macronutrients
- Protein is a building block for the body. Sources include meat, chicken, fish, eggs, legumes, and cheese.
- Carbohydrate is an energy source. Sources include rice, potatoes, pasta, and cereals.
- Fat is an energy source. Sources include oils, butter, cream, and lard.
Amino Acids
- Amino acids are organic compounds that combine to form proteins
- Essential amino acids cannot be made by the body and need to be obtained through food
- Essential amino acids are building blocks of life and are used by the body:
- To break down food
- For growth
- To repair body tissue
- For many other body functions
Phenylketonuria (PKU)
- PKU is a rare genetic disorder that affects the way the body breaks down phenylalanine
- Phenylalanine is an amino acid found in protein
- If PKU is left untreated, it can lead to serious health problems, including:
- Intellectual disability
- Seizures
- Behavioral problems
- Skin problems
Dietary Management of PKU
- The aims of dietary treatment are to:
- Reduce phenylalanine levels to 120-360 µmol/l 12years
- Provide adequate protein, energy, vitamins and minerals for growth
- Replace tyrosine and prevent deficiencies
- Provide variety, palatability and flexibility to suit individual lifestyles
Types of Diet for PKU Management
- Dietary management for PKU consists of 3 components:
- Natural Protein (Measured amounts of phenylalanine ): This is restricted in order to maintain optimum levels
- Synthetic Amino Acid mixture (phenylalanine-free infant formula / drink): This is a manufactured protein source, usually in the form of a drink, and balances the child’s protein requirements
- “Free Foods” & Vitamins and minerals: This refers to foods that are “free” from protein. Such foods are rich in carbohydrates and fat, but patients must avoid medications sweetened using Aspartame.
Galactosaemia
- Galactosaemia is a disorder of carbohydrate metabolism
- It is caused by a deficiency of an enzyme that metabolises the sugar galactose, which is present in lactose
- Signs and symptoms include:
- Poor sucking reflex
- Poor feeding and weight gain
- Vomiting and diarrhea
- Jaundice
- Cataracts
- Lethargy and hypotonia
- Hepatomegaly
- Coagulopathy
- Susceptibility to infection, especially E. coli
Management of Galactosaemia
- A galactose-free diet for life is the only form of treatment. No dairy or milk derivatives, including breastfeeding, are permitted
- Untreated galactose accumulates in the brain, liver, kidneys, eyes and ovaries
- This can lead to:
- Intellectual disability
- Cirrhosis
- Cataracts
- Renal problems
- Female infertility
History of Galactosaemia Screening
- The Beutler Test is used for immediate testing after birth
- The Beutler Test tests for enzyme activity in red blood cells and is independent of food intake
- Newborn screening sample taken 72-120 hrs after to detect other abnormalities.
High Incidence of Galactosaemia in Traveller Parents
- The incidence of this disorder is approximately 1 in 450 births among Traveller parents
- The incidence is approximately 1 in 36,000 births in the non-traveller Irish community
Nursing Care for Galactosaemia Patients
- General observations
- Neurological status
- TPR (temperature, pulse, respiration)
- Intake/output (Strict Calorie count)
- Diet
- Discontinue all natural protein-containing products
- Continue synthetic protein mixture (orally or via a nasogastric tube)
- On-going education
- Multidisciplinary management and support
Multidisciplinary Support
- Patients with Galactosaemia benefit from multidisciplinary support, including:
- Metabolic clinic
- Psychology
- Social Work
- Other (e.g., Neurology, Speech and Language therapy)
Mucopolysaccharide Diseases
- Mucopolysaccharides are long chains of sugar molecules used in the building of connective tissues in the body
Lysosomal Storage Disorders
- A group of genetic disorders in which harmful quantities of certain substances build up in various parts of the body
Signs & Symptoms of Lysosomal Storage Disorders
- General
- Short stature
- Coarse/distinctive facies
- Enlarged adenoids/tonsils
- Hepatosplenomegaly
- Umbilical/inguinal hernia
- Bone & Joints:
- Dysostosis multiplex
- Odontoid hypoplasia
- Dysplastic teeth
- Joint stiffness & contractures
- Cardiopulmonary:
- Obstructive airway disease
- Sleep apnea
- Cardiac valve regurgitation/stenosis
Inborn Errors of Metabolic Disorders (IEMs)
- IEMs are a group of inherited disorders that affect the body’s metabolism, the chemical process that breaks down food into energy
- IEMs can cause a wide range of symptoms, from mild to severe
Management of IEMs
- IEMs are typically managed through:
- Dietary restrictions
- Enzyme replacement therapy
- Liver transplantation
- Medications
Summary of Inborn Errors of Metabolic Disorders
- An understanding of the abnormality contributing to metabolic disorders
- The classification of Metabolic Disorders
- The management of a child with Metabolic Disorders
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Description
Test your knowledge on crucial topics such as the Heel Prick Test, autosomal recessive genetic disorders, macronutrients, and amino acids. This quiz will challenge your understanding of newborn screening, the genetic inheritance of disorders, and the role of various macronutrients in nutrition.
