Podcast
Questions and Answers
What is one of the key features of infantile colic?
What is one of the key features of infantile colic?
- Difficulty in breathing
- Persistent vomiting
- Sudden weight loss
- Inconsolable crying for 3 hours or more (correct)
In which period of life does infantile colic typically occur?
In which period of life does infantile colic typically occur?
- After six months
- During teething
- First week of life
- Second or third week of life (correct)
Which factor is NOT attributed as a possible cause of infantile colic?
Which factor is NOT attributed as a possible cause of infantile colic?
- Gases from milk fermentation
- Incorrect feeding techniques
- Maternal diets with cow's milk
- Consistent feeding routines (correct)
Which of the following is a recommended soothing technique for infants with colic?
Which of the following is a recommended soothing technique for infants with colic?
What method is advised for feeding a bottle-fed baby to alleviate colic symptoms?
What method is advised for feeding a bottle-fed baby to alleviate colic symptoms?
What percentage of pediatric provider visits does infantile colic account for during the first few weeks of life?
What percentage of pediatric provider visits does infantile colic account for during the first few weeks of life?
Which of the following is essential for diagnosing infantile colic?
Which of the following is essential for diagnosing infantile colic?
Which of the following symptoms is NOT commonly observed in infants with colic?
Which of the following symptoms is NOT commonly observed in infants with colic?
What is the primary etiology of gastric distension in infants?
What is the primary etiology of gastric distension in infants?
Which treatment is recommended for a child experiencing simple functional vomiting?
Which treatment is recommended for a child experiencing simple functional vomiting?
Which of the following factors is NOT a common cause of constipation in infants?
Which of the following factors is NOT a common cause of constipation in infants?
What is a known treatment approach for infantile diarrhea?
What is a known treatment approach for infantile diarrhea?
Which of the following statements about cleft lip and palate is true?
Which of the following statements about cleft lip and palate is true?
What is the recommended management for constipation in infants?
What is the recommended management for constipation in infants?
What consequence can result from untreated infantile diarrhea?
What consequence can result from untreated infantile diarrhea?
Which is a known factor contributing to infantile diarrhea?
Which is a known factor contributing to infantile diarrhea?
What is a common symptom associated with cleft lip and palate?
What is a common symptom associated with cleft lip and palate?
What is a significant goal of nonsurgical treatment for cleft lip and palate?
What is a significant goal of nonsurgical treatment for cleft lip and palate?
Which of the following is NOT a major nutrient involved in inborn errors of metabolism?
Which of the following is NOT a major nutrient involved in inborn errors of metabolism?
What is a vital strategy in managing inborn errors of metabolism?
What is a vital strategy in managing inborn errors of metabolism?
Why is early initiation of dietary therapy important in inborn errors of metabolism?
Why is early initiation of dietary therapy important in inborn errors of metabolism?
What can frequent respiratory infections in infants with cleft lip and palate indicate?
What can frequent respiratory infections in infants with cleft lip and palate indicate?
In dietary management of inborn errors of metabolism, which of these is crucial for monitoring?
In dietary management of inborn errors of metabolism, which of these is crucial for monitoring?
What effect might inadequate oral intake have on infants with cleft lip and palate?
What effect might inadequate oral intake have on infants with cleft lip and palate?
What is the primary cause of phenylketonuria (PKU)?
What is the primary cause of phenylketonuria (PKU)?
Which co-factor therapy approach is employed for inborn errors of metabolism?
Which co-factor therapy approach is employed for inborn errors of metabolism?
What is the recommended time frame for diagnosing PKU in infants?
What is the recommended time frame for diagnosing PKU in infants?
What is the normal blood concentration range for phenylalanine?
What is the normal blood concentration range for phenylalanine?
How does a deficiency of phenylalanine hydroxylase affect the metabolism of phenylalanine?
How does a deficiency of phenylalanine hydroxylase affect the metabolism of phenylalanine?
What is a consequence of untreated PKU?
What is a consequence of untreated PKU?
What are hyperphenylalaninemias associated with?
What are hyperphenylalaninemias associated with?
Why is tyrosine important in relation to phenylalanine metabolism?
Why is tyrosine important in relation to phenylalanine metabolism?
What indicates a positive result in the Dinitrophenyl hydrazine test (DNPH) for PKU?
What indicates a positive result in the Dinitrophenyl hydrazine test (DNPH) for PKU?
What is the normal blood phenylalanine (Phe) concentration range for detecting PKU?
What is the normal blood phenylalanine (Phe) concentration range for detecting PKU?
Which symptom is NOT commonly associated with Phenylketonuria (PKU)?
Which symptom is NOT commonly associated with Phenylketonuria (PKU)?
What is the main dietary treatment for individuals with PKU?
What is the main dietary treatment for individuals with PKU?
What may indicate a need to change the diet in a child with PKU?
What may indicate a need to change the diet in a child with PKU?
What is the primary source of protein in the formula for children with PKU?
What is the primary source of protein in the formula for children with PKU?
Which of the following is a characteristic odor associated with PKU?
Which of the following is a characteristic odor associated with PKU?
What kind of monitoring is essential for children diagnosed with PKU?
What kind of monitoring is essential for children diagnosed with PKU?
What genetic pattern is associated with Maple Syrup Disease (MSUD)?
What genetic pattern is associated with Maple Syrup Disease (MSUD)?
Which of the following symptoms is most characteristic of Maple Syrup Disease?
Which of the following symptoms is most characteristic of Maple Syrup Disease?
What is the primary goal of Medical Nutrition Intervention (MNI) for patients with MSUD?
What is the primary goal of Medical Nutrition Intervention (MNI) for patients with MSUD?
Which branched-chain amino acid (BCAA) is primarily problematic in MSUD?
Which branched-chain amino acid (BCAA) is primarily problematic in MSUD?
What potential complication could arise from Maple Syrup Disease if left untreated?
What potential complication could arise from Maple Syrup Disease if left untreated?
Flashcards
Infantile Colic
Infantile Colic
A condition in infants characterized by inconsolable crying, irritability, and screaming for 3+ hours without a clear cause, typically occurring in the second or third week of life.
Symptoms of Colic
Symptoms of Colic
Crying, irritability, screaming, red face, abdominal tension, typically in the evening.
Colic's Possible Causes
Colic's Possible Causes
Feeding issues (overfeeding, underfeeding, insufficient burping, formula changes), maternal cow's milk diet, milk fermentation gases.
Diagnosis of Colic
Diagnosis of Colic
Established by ruling out other medical causes after a detailed history and physical examination.
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Colic Treatment
Colic Treatment
There are no universal guidelines, but recommendations include vertical feeding, frequent burping, and reducing swallowed air.
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Soothing Methods
Soothing Methods
Techniques like rides in a car, pacifiers, rocking, swings, massages, soft noise, reduced stimulation, baths, and swaddling.
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Simple Functional Vomiting
Simple Functional Vomiting
Spit-up or regurgitation that is common in the first few months of a baby's life.
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Pediatric Provider Visits
Pediatric Provider Visits
Infantile colic leads to a significant portion of pediatric provider visits (10-20%) in the first few weeks of a baby's life.
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Gastric Distension in Infants
Gastric Distension in Infants
Overfeeding, use of hot formula, lack of burping, and air swallowing during feeding can cause a baby's stomach to swell.
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Infantile Constipation Cause
Infantile Constipation Cause
Infantile constipation might be due to factors like diet (low fiber) or lack of activity. Psychological reasons can also play a role.
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Infantile Diarrhea
Infantile Diarrhea
Infants may experience diarrhea, which involves loose stools, with possible dehydration and electrolyte loss.
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Infantile Diarrhea Treatment
Infantile Diarrhea Treatment
Treatment for infantile diarrhea often includes antibiotics (if bacterial), electrolyte-rich formulas, and oral dehydration solutions to replenish fluids and minerals.
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Cleft Lip/Palate Etiology
Cleft Lip/Palate Etiology
Cleft lip and palate are birth defects caused by incomplete closure of the lip and/or roof of the mouth during development.
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Cleft Palate Definition
Cleft Palate Definition
A cleft palate is an opening in the roof of the mouth, allowing communication between the mouth and nose.
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Infantile Constipation Treatment
Infantile Constipation Treatment
Treating infantile constipation often involves increasing fluid and fiber intake in the diet, avoiding strict laxatives unless prescribed.
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Cleft Lip
Cleft Lip
An opening in the upper lip, potentially extending into the nose, on one or both sides, or in the middle.
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Cleft Lip and Palate
Cleft Lip and Palate
A combination of a cleft in the lip and the roof of the mouth (palate).
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Swallowing Difficulty (Cleft Lip/Palate)
Swallowing Difficulty (Cleft Lip/Palate)
Challenges with the act of swallowing, often resulting in food going into the lungs (aspiration).
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Dietary Management (IEM)
Dietary Management (IEM)
Adjusting the diet to manage inborn errors of metabolism (IEM) by reducing specific nutrients that may create harmful byproducts.
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Protein Metabolism Issues (IEM)
Protein Metabolism Issues (IEM)
Problems with the body processing protein, including amino acids and organic acids.
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Carbohydrate Metabolism Issues (IEM)
Carbohydrate Metabolism Issues (IEM)
Issues with how the body processes sugars (glucose, galactose, and fructose).
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Fat Metabolism Issues (IEM)
Fat Metabolism Issues (IEM)
Disruptions in the body's processing of fats, including fatty acids and the electron transport chain.
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Surgical Treatment (Cleft Lip/Palate)
Surgical Treatment (Cleft Lip/Palate)
Surgical repair of the cleft lip and/or palate for improved appearance and function.
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Maple Syrup Urine Disease (MSUD)
Maple Syrup Urine Disease (MSUD)
A rare genetic disorder where the body can't break down certain amino acids, causing a build-up in the blood. The urine of affected individuals smells sweet, like maple syrup.
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What amino acids are affected by MSUD?
What amino acids are affected by MSUD?
Leucine, isoleucine, and valine, which are called branched-chain amino acids (BCAAs).
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MSUD Symptoms
MSUD Symptoms
These include avoiding food, vomiting, lethargy, seizures, and urine that smells like maple syrup.
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Why is leucine problematic in MSUD?
Why is leucine problematic in MSUD?
Leucine metabolism is significantly more abnormal than that of the other two BCAAs, even though the exact reason is still unknown.
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MSUD Treatment Goal
MSUD Treatment Goal
To keep plasma leucine concentrations at 100-200 μmol/L in infants and children by managing their diet.
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Inborn Errors of Metabolism (IEM)
Inborn Errors of Metabolism (IEM)
Genetic conditions where a specific enzyme is missing or defective, leading to a buildup of harmful substances in the body.
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Co-factor therapy
Co-factor therapy
Using pharmacological doses of vitamins to activate non-functional enzymes in IEMs.
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Phenylketonuria (PKU)
Phenylketonuria (PKU)
A common IEM where the body can't break down the amino acid phenylalanine.
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Phenylalanine Hydroxylase (PAH)
Phenylalanine Hydroxylase (PAH)
The enzyme responsible for converting phenylalanine to tyrosine. In PKU, it's deficient or inactive.
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Hyperphenylalaninemia
Hyperphenylalaninemia
Elevated levels of phenylalanine in the blood, a hallmark of PKU.
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Diagnosis of PKU
Diagnosis of PKU
Performed early in life using a blood sample taken from the baby's heel.
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PKU Management
PKU Management
Involves dietary restrictions to limit phenylalanine intake.
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Tyrosine Replacement
Tyrosine Replacement
Supplementing tyrosine, which is deficient in PKU due to the lack of PAH activity.
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What is PKU?
What is PKU?
Phenylketonuria (PKU) is a rare inherited disorder that causes a buildup of phenylalanine in the blood. It's caused by a missing or defective enzyme needed to break down phenylalanine.
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PKU Test
PKU Test
A simple blood test from the heel of a baby is done shortly after birth to check for PKU. Normal levels are 1-3 mg/dL, while levels above 8 mg/dL indicate PKU. A urine test using dinitrophenylhydrazine (DNPH) can also be used.
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Phenylalanine (Phe) in PKU
Phenylalanine (Phe) in PKU
Phenylalanine (Phe) is an amino acid that cannot be broken down properly in PKU. It builds up in the body, causing serious health problems.
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PKU Treatment
PKU Treatment
Treatment involves a special diet that restricts Phe intake. The goal is to keep blood Phe levels within the safe range, typically 2-6 mg/dL.
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Dietary Therapy for PKU
Dietary Therapy for PKU
Dietary therapy involves a special formula/medical food that provides essential nutrients but lacks Phe. It includes L-amino acids, excluding Phe, plus carbohydrates and fats from sources like corn syrup solids, tapioca starch, sucrose, and oils.
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Monitoring PKU
Monitoring PKU
Regular blood Phe levels monitoring is crucial for individuals with PKU, especially in children, to ensure proper treatment and prevent complications.
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Outcome of PKU Treatment
Outcome of PKU Treatment
With proper dietary management, individuals with PKU can lead healthy and fulfilling lives. Long-term monitoring and adherence to the special diet are crucial for preventing lifelong health challenges.
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Infantile Colic
- A condition that occurs in the second or third week of life.
- Key features include inconsolable crying, irritability, and screaming lasting for 3+ hours with no apparent cause.
- This condition accounts for 10%-20% of pediatric provider visits in the first few weeks of a baby's life.
- Symptoms often occur in the evening, with red-faced appearances and abdominal tension.
- Traditional soothing methods are often ineffective.
- Diagnosis is made through history and physical examination after ruling out other causes.
- Etiology is unknown but may be related to feeding techniques (overfeeding, underfeeding, insufficient burping, formula changes), maternal diet (especially cow's milk in breastfed infants), or gas from milk fermentation.
- No universal treatment guidelines exist.
- Healthcare providers may recommend a trial of feeding bottle-fed babies vertically, frequent burping, and using a bottle with a collapsible bag to reduce swallowed air.
- Soothing techniques include rides in car/stroller, pacifiers, rocking, swings, abdominal massage, white noise, warm baths, and swaddling.
Vomiting (Simple Functional Vomiting)
- Spitting up or regurgitation, common in the first few months.
- Possible causes include gastric distension from overfeeding, giving a hot formula, or not burping the child.
- Air swallowing during feeding or crying can also cause vomiting, especially in bottle-fed infants.
- Infants should be given the formula without overfeeding.
- Warm food and burping are recommended.
Constipation
- Typically occurs at the end of the first year.
- Possible causes include psychological reasons, diet (fiber-free or high in solid additives), or lack of physical activity.
- Treatment involves sufficient fluids and enough fiber, alongside increased fruit and vegetable consumption.
- Laxatives are not recommended unless prescribed by a physician.
Infantile Diarrhea
- Loose, watery stools leading to dehydration, loss of body fluids and electrolytes, and mineral depletion.
- Potential causes include bacterial infection, requiring treatment as it can be dangerous, or nutritional issues (e.g., too much fiber).
- Treatment is using antibiotics, if bacterial, and electrolyte replacement solutions (oral rehydration solutions containing NaCl, KCl, acetate, lactate, and bicarbonate).
- Other treatments may include use of certain gels or pectins to solidify feces, and a low-fiber diet.
Cleft Lip and Palate
- A birth defect where the lip and/or the roof of the mouth does not properly form or close.
- It's one of the most common birth defects.
- Causes are unknown, possibly genetic and/or environmental.
- Cleft palate involves an opening into the nose, while a cleft lip may extend into the nose and can be on one or both sides or in the middle.
- Signs include swallowing difficulties, breastfeeding challenges, underweight, and frequent respiratory infections.
- Treatment involves surgical repair for improved cosmetic and functional results — sometimes accompanied by nonsurgical approaches to optimize feeding, growth, and successful surgical outcomes.
- Feeding and nutrition goals for children with cleft lips/palates include effective feeding methods, expected growth patterns, introduction of complementary foods, and maximizing healing.
Inborn Errors of Metabolism (IEM)
- Genetic conditions affecting the metabolism of protein, carbohydrates, or fats.
- Dietary management is crucial, starting as early as possible to prevent brain damage.
- Strategies to manage IEM include dietary restrictions of certain substrates (e.g., amino acids in phenylketonuria) and replacement of essential nutrients when deficient.
- In some IEMs, co-factor therapy with high doses of vitamins may be necessary to stimulate enzyme activity, or to enhance excretion of toxic metabolites.
Phenylketonuria (PKU)
- The most common IEM.
- A genetic defect prevents the conversion of phenylalanine to tyrosine.
- This leads to phenylalanine accumulation in the blood and urine, causing potential issues for development.
- Diagnosis involves newborn screening (blood sample).
- Treatment is a strict, lifelong dietary management restricting phenylalanine and supplementing tyrosine.
- Symptoms of mental retardation, behavioral issues, seizures, tremors, hyperactivity, stunted growth, skin rashes (eczema), and small head size (microcephaly) can appear.
- There is a specific musty odor in the child's breath, skin, and urine.
- A crucial part of the treatment is a medical formula or food to satisfy nutritional needs and restrict the phenylalanine-containing foods.
- Maternal PKU requires strict blood level management during pregnancy to prevent fetal issues.
Maple Syrup Urine Disease (MSUD)
- A rare inherited metabolic disease affecting branched-chain amino acid (BCAA) metabolism.
- Untreated, it can lead to coma and death.
- Diagnosis may manifest with lethargy, vomiting, poor feeding, and hypertonia in the first days to weeks of life, and a distinctive maple syrup odor in the urine and sweat.
- Treatment focuses on maintaining appropriate blood amino acid levels (leucine) through dietary restrictions of BCAAs (leucine, isoleucine, and valine) and using a medical formula product.
Galactosemia
- A genetic disorder in galactose metabolism.
- It's characterized by the accumulation of galactose and its toxic by-products in blood and tissues.
- Diagnosis is done using routine blood tests.
- Infants can be diagnosed in the first weeks-months of life.
- Symptoms can include galactosemia in the urine, mental retardation, liver damage/enlargement, cataracts, and hypoglycemia.
- The treatment is to completely avoid all sources of galactose in infant's diet (breast milk, cow's milk and other dairy).
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