Genetics and Nutrition Quiz

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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?

120-360 µmol/l (correct)

300-400 µmol/l

50-200 µmol/l

80-250 µmol/l

Which component of dietary management for PKU involves controlling the intake of natural protein?

Vitamins and minerals

Natural Protein (correct)

Free Foods

Synthetic Amino Acid mixture

What type of protein source is used in the synthetic amino acid mixture for dietary treatment of PKU?

Natural whey protein

Phenylalanine-rich protein

Phenylalanine-free infant formula (correct)

Whole food protein sources

Which of the following practices is NOT advisable for individuals following a PKU dietary management plan?

Incorporating high-protein supplements Signup and view all the answers

During dietary management for PKU, which type of food should be avoided due to its phenylalanine content?

Natural Protein sources Signup and view all the answers

What is the primary objective of dietary treatment for individuals with PKU?

To maintain adequate phenylalanine levels while ensuring nutritional needs Signup and view all the answers

For effective dietary management of PKU, how should the consumption of free foods be balanced?

It should complement the synthetic amino acid mixture's nutritional profile. Signup and view all the answers

What is a common misconception about dietary treatment for PKU regarding the use of sweeteners?

Aspartame should be avoided due to its phenylalanine content. Signup and view all the answers

What is the primary purpose of the Heel Prick Test?

To screen for rare conditions in newborn babies Signup and view all the answers

What is a characteristic feature of autosomal recessive genetic disorders?

Affected children can have unaffected siblings who are carriers Signup and view all the answers

Which food sources are primarily recognized for providing carbohydrates?

Rice, potatoes and pasta Signup and view all the answers

Why are essential amino acids critical for human health?

They must be derived exclusively from dietary sources. Signup and view all the answers

Which macronutrient is incorrectly matched with its primary function?

Fat - Building blocks Signup and view all the answers

What role do amino acids play in the body aside from forming proteins?

They assist in the breakdown of food and repair of tissues. Signup and view all the answers

How much possibility is there for an affected child of having the condition in an autosomal recessive inheritance scenario?

25% chance with each pregnancy Signup and view all the answers

Which of the following statements about the consumption of essential amino acids is true?

They must be consumed through dietary sources. Signup and view all the answers

What is the primary treatment for galactosaemia?

Galactose-free diet Signup and view all the answers

What is the incidence of galactosaemia among infants born to Traveller parents?

1 in 450 Signup and view all the answers

Which of the following is NOT a sign or symptom of galactosaemia?

Dehydration Signup and view all the answers

What diagnostic test is performed to detect enzyme activity for galactosaemia?

Beutler Test Signup and view all the answers

What is the risk associated with untreated galactose accumulation?

Cerebral hemorrhage Signup and view all the answers

Which nutritional product should be strictly avoided in the diet of a galactosaemia patient?

Any dairy or milk derivatives Signup and view all the answers

What other form of care is crucial alongside the dietary management of galactosaemia?

Strict calorie monitoring Signup and view all the answers

When is the Beutler Test recommended to be performed for at-risk infants?

72-120 hrs after birth Signup and view all the answers

What is the primary function of mucopolysaccharides in the body?

Building connective tissues Signup and view all the answers

Which of the following statements about nutritional support in metabolic clinics is accurate?

Extra calories are necessary to prevent catabolism. Signup and view all the answers

What does the term 'muco' in mucopolysaccharides refer to?

Thick jelly-like consistency Signup and view all the answers

Which lysosomal storage disorder has the highest prevalence according to the data provided?

Gaucher Signup and view all the answers

Which of the following are general signs and symptoms of mucopolysaccharide diseases?

Coarse/distinctive facies Signup and view all the answers

What is an example of a multidisciplinary support function mentioned in the context of metabolic disorders?

Nutritional education Signup and view all the answers

Which of the following conditions is associated with dysostosis multiplex?

Hurler-Scheie syndrome Signup and view all the answers

In the context of nutritional support, what is dextrose primarily used for?

Supplying calories Signup and view all the answers

What is a common cardiovascular issue referenced in the symptoms of mucopolysaccharide diseases?

Cardiac valve regurgitation/stenosis Signup and view all the answers

What percentage of individuals are affected by Sanfilippo A according to the data?

7% Signup and view all the answers

What is a potential complication of phenylketonuria if dietary restrictions are not followed?

Cognitive impairment Signup and view all the answers

Which of the following is a characteristic of inborn errors of metabolism?

Results in a deficiency of specific enzymes Signup and view all the answers

What is a primary objective in the management of metabolic disorders?

Restoration of normal metabolic function Signup and view all the answers

In what aspect does glycogen storage disease primarily affect metabolic processes?

Glycogen synthesis and breakdown Signup and view all the answers

Which of the following best describes the management strategies for children with inborn errors of metabolism?

A combination of dietary management and supplementation Signup and view all the answers

Which condition is most likely to require lifelong dietary management?

Phenylketonuria Signup and view all the answers

What is a critical factor in early detection of metabolic disorders in newborns?

Routine heel prick screening Signup and view all the answers

The pathophysiology of inborn errors of metabolism often involves defects in what biological component?

Proteins and enzymes Signup and view all the answers

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.