Metabolic Disorders: All You Need to Know

Get to know everything about inherited and acquired metabolic disorders – their causes, types, symptoms, effects, and line of treatment for happy and healthy living.

1. All You Need to Know Get to know everything about inherited and acquired metabolic disorders – their causes, types, symptoms, effects, and line of treatment for happy and healthy living. Metabolic Disorders www.epichs.org

2. What is Metabolism? Specific proteins in our body control the chemical reactions of metabolism. In fact, at any given point of time, thousands of metabolic reactions happen simultaneously — all regulated by the body — to keep our cells healthy and working. Metabolism is our body’s mechanism – a chemical process – to transform and convert the food that we eat into energy or the fuel that helps us to stay alive. Any disturbance in these chemical/ metabolic reactions leads to metabolic disorders. In fact, in US alone approximately 35% people suffer from chronic metabolic disorders – a number that’s quickly increasing and intimidating. 35%

3. What are Metabolic Disorders? A metabolic disorder occurs when our body fails to process the food that we eat into fuel/ energy. This causes the body to have either too much or too little of the essential substances needed to stay healthy. This, in turn, leads to chemical buildup in the body, causing the abnormal functioning of our body processes and various diseases. Types of Metabolic Disorders On the basis of their time of occurrence, metabolic disorders are divided into two groups: Genetic/ Inborn Metabolic Disorders Inborn errors of metabolism (IEMs) are complex disorders that occur due to an error in a genetic code. This leads to a lowered or deficient activity of an enzyme required in the intermediary pathway of metabolism. Passed from parents to their children, genetic metabolic disorders cause morbidity and mortality in pediatrics. Their delayed diagnosis and treatment can lead to a variety of adverse outcomes, including moderate-to-severe neuropsychological dysfunction, mental retardation, and death. Acquired Metabolic Disorders Acquired metabolic disorders are those metabolic conditions that one acquires during his lifetime. These can be either due to nutritional deficiencies, gene mutation, or because of unhealthy lifestyle practices. Various environmental factors are also supposed to be the reason behind acquired metabolic disorders. Genetic/ Inborn Metabolic Disorders Acquired Metabolic Disorders

4. Reasons that lead to Metabolic Disorders Metabolic disorders can occur due to: A missing enzyme or vitamin that’s necessary for the metabolism of food An abnormal chemical reaction that is affecting the normal metabolic processes A disease in the liver, endocrine glands, pancreas, or other organs involved in metabolism Nutritional deficiencies A genetic mutation The consumption of too much of certain food substances

5. Types of Metabolic Disorders Metabolic disorders are of various types. These include: Amino Acid Metabolism Disorders Protein Metabolism Disorders Carbohydrate Metabolism Disorders Fatty Acid Metabolism Disorders Glycolipid Disorders Vitamin Metabolism Disorders Lysosomal Storage Disorders Peroxisomal Disorders Mineral Disorders Tay-Sachs Disease Phenylketonuria Tyrosinemia Maple Syrup Urine Disease Homocystinuria Organic Acidemias Aminoaciduria Urea Cycle Defects Diabetes Insipidus Hereditary Fructose Intolerance Pyruvate Metabolism Disorders Galactosemia Von Gierke’s Disease Mcardle Disease Pompe’s Disease Forbes’ Disease Niemann-Pick Disease Fabry’s Disease Gaucher’s Disease Medium-Chain Acyl-coenzyme A Dehydrogenase (MCAD) Deficiency Biotinidase Deficiency Hurler Syndrome Krabbe Disease Zellweger Syndrome Adrenoleukodystrophy Wilson Disease Menkes Disease Cystinosis

6. There are hundreds of metabolic disorders caused by either a missing or non-functional enzyme or due to the mutation of a single or multiple genes. The common ones include: Examples of Metabolic Disorders

7. The most common metabolic disorder, diabetes affects approximately 26 million Americans (Source: CDC). In fact, according to the American Diabetes Association, 30.3 million children and adults (about 9.4% of the U.S. population) have diabetes. The lack of insulin, over the time, leads to Diabetes In diabetes (especially type 1 diabetes), the T cells attack and kill beta cells in the pancreas, which produce insulin. Symptoms include increased blood sugar, frequent urination, increased thirst, weakness, lethargy, increased hunger, weight loss, and tingling hands and feet. Nerve and kidney damage Eyesight impairment Increased risk of heart and kidney impairment

8. Also known as PKU, Phenylketonuria is a rare inherited genetic disorder that causes an amino acid called phenylalanine to build up in the body. Phenylketonuria It is caused by a defect in the gene that helps in the creation of enzyme that’s needed for the break down phenylalanine. People with PKU cannot digest food containing protein as well as an artificial sweetener called aspartame. Its symptoms include skin rashes, seizures, microcephaly, mushy odor in skin and urine, loss of skin pigmentation, psychiatric disorders, intellectual disability and Behavioral, emotional and social problems

9. Also known as Globoid Cell Leukodystrophy , Krabbe disease affects about 1 in 100,000 people in the United States. This leads to the enlargement of organs, affecting their function. It is an inherited, rare and often fatal lysosomal storage disorder that leads to the progressive damage of the nervous system. People with Krabbe disease suffer from the deficiency of Galactosyl Ceramidase production, which leads to the extensive degeneration of the myelin sheaths (the protective coating) surrounding nerves in the brain. Without the myelin protection, the brain cells degenerate , and the body’s nervous system doesn’t work properly. Infants with the disease experience excessive irritability, difficulty swallowing, vomiting, unexplained fevers, partial unconsciousness, spastic contractions and seizures. Krabbe Disease

10. Gaucher’s disease occurs due to an excessive buildup of certain fatty substances in certain organs, particularly in the spleen and liver. Gaucher’s Disease This leads to the enlargement of organs, affecting their function. The fatty substances can also build up in bone tissue, causing the weakening of bone and increasing the risk of fractures. A genetic disorder , Gaucher’s disease is most common in Jewish people of Eastern and Central European descent (Ashkenazi). People with Gaucher’s disease suffer from varying degrees of problems, including abdominal complaints, skeletal abnormalities, blood disorders, muscle rigidity, abnormal eye movements, swallowing difficulties and seizures.

11. Tay-Sachs Disease A rare genetic metabolic disorder that occurs due to the absence of an enzyme that is responsible for the breakdown of fatty substances in the body called gangliosides. The absence of enzyme leads to the build of gangliosides to toxic levels in the child's brain and affect the function of the nerve cells. Its symptoms include loss of motor skills, seizures, vision and hearing loss, muscle weakness, blindness, paralysis, which eventually leads to death . Tay-Sachs disease is common in Eastern and Central European Jewish communities, Certain French Canadian communities in Quebec, Old Order Amish community in Pennsylvania, and Cajun Community of Louisiana.

12. Familial hypercholesterolemia is a genetic disorder that occurs due to a defect in the gene responsible for the processing of body’s “bad” cholesterol. People with familial hypercholesterolemia have high levels of low-density lipoprotein (LDL) cholesterol in the blood, which plaques arteries increasing the risk of heart disease and early heart attack. This condition occurs only when the child inherits the mutated gene from both the parents. Familial Hypercholesterolemia

13. Hereditary Hemochromatosis In this metabolic disorder, the mutated gene causes your body to absorb too much iron from the food you eat. The excess iron is deposited in several organs, including liver, heart and pancreas and causes liver cirrhosis, liver cancer, diabetes, and heart disease. Its symptoms include joint pain, abdominal pain, weakness, fatigue, memory fog, impotence, and loss of sex drive It’s treated by removing blood from the body (phlebotomy) on a regular basis.

14. Alcohol abuse Diuretic abuse Ingestion of poison or toxins, including excessive intake of aspirin, bicarbonate, ethylene glycol, alkali, or methanol Diabetes Gout Pneumonia Sepsis (life-threatening bacterial blood infection) Chronic medical conditions , including kidney diseases, kidney stones, lung diseases Family history of metabolic disorder HIV/AIDS Risk Factors for Metabolic Disorders

15. Screening for Metabolic Disorders Metabolic Screening : A special testing that looks at the amino acid, fat and glucose metabolism patterns to detect the changes. Liver function tests Blood tests to detect gene mutations Physical examination Neonatal or Newborn Screening is a vital process toward the identification and detection of genetic metabolic disorders in apparently healthy infants. It is the easiest and the most effective way to prevent morbidity, mortality and life-long disabilities. The comprehensive system includes testing, evaluation, diagnosis, treatment, management, education, and regular follow up. Additional Testing Apart from neonatal screening, or if the disorder is diagnosed at latter stages of life, you doctor may prescribe other tests to confirm the presence of metabolic disorders. These include:

16. Treatment of Metabolic Disorders Nutritional counseling and support Mineral supplementation Vitamin supplementation Continuous periodic assessments Physical therapies Bone marrow transplantation Enzyme replacement therapy in selected patients Gene therapy in selected patients Surgery to relieve pain or symptoms Through other supportive care options

17. As with any other physiological disorder, the key to effective treatment of metabolic disorders is its timely diagnosis. The sooner you seek medical intervention, the better are your chances of having positive outcomes. All pregnant mothers and people with the family history of metabolic disorders must go for genetic screening to identify inherited metabolic disorders.    Dealing with Metabolic Disorders At EPIC Health , we can help you accurately identify and detect all types of genetic and acquired metabolic disorders and provide expert medical assistance for superior outcomes. With the right lifestyle changes and medical assistance, we can help you successfully manage your condition for a happy and healthy life. 

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