Protein Disorders PDF 2024

2024-10-21 What are Protein Disorders and Disorders of PROTEIN Protein Metabolism? DISORDERS...

2024-10-21 What are Protein Disorders and Disorders of PROTEIN Protein Metabolism? DISORDERS Protein Disorders: Conditions affecting protein production, structure, or function (e.g., Sickle Cell Disease, Cystic Fibrosis). Disorders of Protein Metabolism: Conditions where the Reuben Victor M. Laguitan body cannot properly break down or synthesize Course Instructor proteins due to enzyme deficiencies or mutations (e.g., Phenylketonuria, Maple Syrup Urine Disease). 1 2 Overview of Protein Function and Metabolism Common Protein Disorders Proteins: Essential for enzymatic reactions, structure, 1.Sickle Cell Disease (SCD) transport, immunity, and hormones. 2.Cystic Fibrosis (CF) Protein Metabolism: The process by which proteins are 3.Amyloidosis broken down into amino acids for energy or synthesized to build body tissues. Enzymes play a crucial role in this process. Disorders arise from: Genetic mutations that cause enzyme deficiencies, leading to toxic buildup or deficiencies in essential metabolites. 3 4 Common Disorders of Protein Metabolism Common Disorders of Protein Metabolism 1.Phenylketonuria (PKU) 3. Homocystinuria ⚬ Inability to metabolize phenylalanine (an amino ⚬ Defect in methionine metabolism leading to acid). homocysteine buildup. 2.Maple Syrup Urine Disease (MSUD) 4. Urea Cycle Disorders ⚬ Inability to break down branched-chain amino ⚬ Inability to remove ammonia from the blood due to acids. defects in the urea cycle enzymes. 5. Malnutrition and Protein Deficiency 5 6 1  2024-10-21 Phenylketonuria (PKU) PKU is a genetic disorder caused by a deficiency of the enzyme phenylalanine hydroxylase, which prevents the breakdown of the amino acid phenylalanine. This leads to its accumulation, causing damage to the brain. Symptoms: ⚬ Musty odor in breath or urine ⚬ Skin discoloration ⚬ Developmental delays, seizures (untreated PKU) (NICHD; Cleveland Clinic) 7 8 Diagnosis: Maple Syrup Urine Disease (MSUD) Newborn screening (blood test) MSUD is a genetic disorder affecting the metabolism of Phenylalanine levels test branched-chain amino acids, leading to toxic buildup. Symptoms: Medications: ⚬ Sweet-smelling urine (like maple syrup) Sapropterin (Kuvan): Enhances phenylalanine ⚬ Poor feeding in infants, lethargy, seizures metabolism (NICHD) Pegvaliase (Palynziq): Enzyme replacement therapy for adults 9 10 Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease (MSUD) Diagnosis: ⚬ Newborn screening (urine analysis) ⚬ Blood tests for amino acid levels Medications: ⚬ Amino acid supplements ⚬ Avoidance of leucine, isoleucine, and valine in the diet 11 12 2  2024-10-21 Alkaptonuria A rare metabolic disorder where homogentisic acid builds up due to a deficiency of homogentisate 1,2- dioxygenase. Symptoms: ⚬ Dark urine (black when exposed to air) ⚬ Arthritis in later life ⚬ Pigmentation of ear and eyes Diagnosis: ⚬ Urine analysis for homogentisic acid ⚬ Genetic testing ⚬ NICHD 13 14 Alkaptonuria Medication: Nitisinone (off-label use): Reduces homogentisic acid production Nursing Interventions: Educate on joint protection and pain management Monitor for cardiovascular complications Encourage physical therapy 15 16 Homocystinuria Homocystinuria Diagnosis: Newborn screening (blood test) A disorder caused by a defect in the metabolism of the Plasma homocysteine levels amino acid methionine, leading to high levels of homocysteine. Medications: Vitamin B6 (Pyridoxine): Reduces homocysteine levels Symptoms: Betaine: Helps in lowering homocysteine levels ⚬ Marfanoid appearance (tall stature, long limbs) ⚬ Dislocated lens in the eyes ⚬ Thrombosis and mental retardation 17 18 3  2024-10-21 Homocystinuria Nursing Interventions: Educate on dietary modifications (low methionine) Monitor for thrombotic events Ensure follow-up with cardiologists and ophthalmologists 19 20 Malnutrition and Protein Deficiency Malnutrition occurs when the body doesn't get enough nutrients, leading to protein-energy malnutrition (PEM). This can result in conditions like Kwashiorkor and Marasmus. Symptoms: ⚬ Kwashiorkor: Edema, enlarged liver, skin lesions ⚬ Marasmus: Muscle wasting, loss of subcutaneous fat 21 22 Kwashiorkor Kwashiorkor Symptoms: Kwashiorkor is caused by a diet Edema (swelling): A key distinguishing deficient in protein but often feature. The lack of protein affects osmotic balance, causing fluid retention in tissues, sufficient in calories. It commonly especially in the abdomen and legs. affects children in regions with Enlarged fatty liver: Protein deficiency limited access to protein-rich impairs the liver’s ability to process fats, leading to fat accumulation. foods. The body’s protein reserves Skin and hair changes: The skin may become deplete, leading to impaired cracked, and hair turns brittle or light in growth, tissue repair, and immune color (flag sign). Irritability and apathy: A common emotional function. response to malnutrition. 23 24 4  2024-10-21 Kwashiorkor Marasmus Other Effects: Growth retardation, muscle wasting, and Marasmus results from a severe immune dysfunction, which increases deficiency in both calories and susceptibility to infections. protein. It’s usually caused by prolonged starvation and affects infants and young children in regions with extreme food scarcity. 25 26 Marasmus Marasmus Other Effects: Symptoms: ⚬ Developmental delays, irritability, and Severe weight loss: A child with marasmus frequent infections due to weakened appears extremely thin with prominent ribs immunity. and bones. Muscle and fat stores are depleted as the body breaks down tissues for energy. Wasting of muscles: Both subcutaneous fat and muscle mass are severely reduced. Lack of edema: Unlike kwashiorkor, there is no fluid retention. Dry, wrinkled skin: The skin loses its elasticity, leading to a withered appearance. 27 28 Comparison of Kwashiorkor and Marasmus Diagnosis and Treatment: Kwashiorkor presents with edema, Diagnosis involves clinical assessment, growth which makes the child appear monitoring, and biochemical tests (albumin, electrolytes, etc.). swollen despite being Treatment: Both conditions require careful malnourished. It often occurs when nutritional rehabilitation: the child’s diet lacks protein but Kwashiorkor: Treatment involves gradually contains enough carbohydrates. increasing protein intake, along with necessary vitamins and minerals. Fluid retention should Marasmus, on the other hand, be carefully managed. involves extreme wasting and lack Marasmus: Treatment starts with small, of both calories and protein. The frequent feeds to avoid refeeding syndrome, followed by gradual reintroduction of energy- body breaks down both muscle and rich and protein-rich foods. fat to survive. 29 30 5  2024-10-21 References: Cleveland Clinic. (2023). Phenylketonuria (PKU): Symptoms, Causes & Treatment. Retrieved from https://my.clevelandclinic.org Mayo Clinic. (2023). Phenylketonuria (PKU) - Diagnosis and treatment. Retrieved from https://www.mayoclinic.org NICHD - Eunice Kennedy Shriver National Institute of Child Health and Human Development. (2023). What are common treatments for phenylketonuria (PKU)? Retrieved from https://www.nichd.nih.gov World Health Organization (WHO). "Management of Severe Malnutrition." Retrieved from https://www.who.int MedlinePlus. "Malnutrition." Retrieved from https://medlineplus.gov/malnutrition.html UNICEF. "The State of the World’s Children: Nutrition." Retrieved from https://www.unicef.org 31 6