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Unlock your guides13.3 Dietary Approaches for Other Common Metabolic Disorders
3 min read•august 9, 2024
Metabolic disorders can wreak havoc on the body's ability to process nutrients. From amino acid and protein issues to carbohydrate and lipid problems, these conditions require specialized dietary approaches. Understanding the unique challenges of each disorder is crucial for effective management.
Nutritional strategies play a vital role in treating metabolic disorders. , dietary restrictions, and supplementation are key tools. and stress management are also essential to prevent complications and maintain metabolic balance in affected individuals.
Amino Acid and Protein Metabolism Disorders
Maple Syrup Urine Disease and Urea Cycle Disorders
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- (MSUD) results from defective metabolism of (leucine, isoleucine, and valine)
- Characterized by sweet-smelling urine resembling maple syrup
- Symptoms include poor feeding, vomiting, and lethargy in infants
- Can lead to neurological problems and developmental delays if untreated
- impair the body's ability to remove ammonia from the blood
- Caused by deficiencies in enzymes responsible for converting ammonia to urea
- Symptoms include confusion, seizures, and coma due to ammonia buildup
- Treatment involves reducing protein intake and using medications to remove excess ammonia
Organic Acidemias and Amino Acid Metabolism Disorders
- occur when the body cannot break down certain amino acids or fatty acids
- Result in accumulation of organic acids in blood and urine
- Include conditions like and
- Symptoms range from vomiting and dehydration to developmental delays and seizures
- affect the breakdown of specific amino acids
- Include (PKU), , and
- PKU involves inability to metabolize phenylalanine, leading to intellectual disability if untreated
- Tyrosinemia affects tyrosine metabolism, causing liver and kidney problems
- Homocystinuria results from defective metabolism of methionine, increasing risk of blood clots and eye problems
Carbohydrate and Lipid Metabolism Disorders
Galactosemia and Glycogen Storage Diseases
- impairs the body's ability to metabolize galactose, a sugar found in milk
- Caused by deficiency in enzymes responsible for galactose breakdown (GALT, GALK, or GALE)
- Symptoms include failure to thrive, liver problems, and cataracts
- Treatment involves eliminating galactose and lactose from the diet
- affect the body's ability to store or break down glycogen
- Include conditions like (Type I) and (Type II)
- Symptoms vary but can include , enlarged liver, and muscle weakness
- Management involves frequent meals, , and sometimes enzyme replacement therapy
Fatty Acid Oxidation and Carbohydrate Metabolism Disorders
- impair the body's ability to break down fatty acids for energy
- Include medium-chain acyl-CoA dehydrogenase (MCAD) deficiency and long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- Can lead to hypoglycemia, muscle weakness, and liver problems during fasting or illness
- Management involves avoiding prolonged fasting and ensuring regular carbohydrate intake
- affect the breakdown or utilization of carbohydrates
- Include and glucose-6-phosphate dehydrogenase (G6PD) deficiency
- Hereditary fructose intolerance causes severe reactions to fructose consumption, including liver and kidney damage
- G6PD deficiency can lead to hemolytic anemia when exposed to certain foods or medications
Nutritional Management Strategies
Specialized Formulas and Dietary Restrictions
- Specialized formulas provide essential nutrients while limiting problematic components
- for protein metabolism disorders (PKU formula)
- for galactosemia or fructose intolerance
- Medium-chain triglyceride (MCT) oil-based formulas for fatty acid oxidation disorders
- Dietary restrictions tailored to specific metabolic disorders
- for urea cycle disorders and some amino acid metabolism disorders
- for galactosemia
- for hereditary fructose intolerance
- Avoiding long-chain fats in some fatty acid oxidation disorders
Supplementation Strategies and Emergency Protocols
- Supplementation strategies address specific nutrient deficiencies or support metabolic function
- in some fatty acid oxidation disorders
- to compensate for restricted diets
- in biotinidase deficiency
- Emergency protocols for metabolic decompensation during illness or stress
- to prevent catabolism in fatty acid oxidation disorders
- for urea cycle disorders
- Increased calorie intake and adjustment of dietary restrictions during illness
- requires careful monitoring and intervention
- Regular blood tests to assess metabolic control and nutrient status
- Adjusting diet and medication during growth spurts, illness, or pregnancy
- Collaboration between dietitians, metabolic specialists, and primary care providers for comprehensive care
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