Metabolic diseases are often caused by genetic defects.
\nThese include rare diseases such as Fabry disease, Pompe disease, mucopolysaccharidosis types I, II and VI, glycogen storage disease type IV, Niemann-Pick disease, Tay-Sachs disease, Gaucher disease, Krabbe disease, Canavan disease, Hurler syndrome, Hunter syndrome, Maroteaux-Lamy syndrome, mucolipidoses III\/IV, Morquio syndrome, Sanfilippo syndrome and others.
\nMetabolic diseases are caused by a defect in one of the enzymes involved in metabolism.
\nIn addition, many metabolic diseases are associated with certain types of cancer, particularly breast cancer.
\nIn most cases, symptoms appear at a young age.
\nSome people only show signs of the disease in adulthood.
\nIn this article, we want to inform you in particular about those diseases that can affect your eyes. <\/p>\n
Metabolic disorders can affect not just one organ, but many different parts of the body.
\nThey can occur in both children and adults.
\nSome metabolic disorders are very rare, while others are quite common.
\nDiabetes mellitus is one of the most common chronic diseases worldwide.
\nIn Germany alone, around 5 million people suffer from it.
\nDiabetes is caused by a lack of insulin or a dysfunction of the pancreas.
\nInsulin regulates the metabolism of glucose in the blood.
\nIf the production of insulin decreases or is disrupted, the blood sugar level rises.
\nThis leads to symptoms such as thirst, hunger, fatigue, weight gain, blurred vision, dry skin and poorly healing wounds.
\nThe following metabolic disorders are the most common: <\/p>\n
Metabolic disorders can cause a number of health problems, including Metabolic disorders: some metabolic disorders occur when an organism cannot break down certain substances or intermediates fast enough.
\nThese substances accumulate in the body and lead to health problems.
\nMetabolic disorders cause a lack of certain metabolic products, which can lead to disturbances in bodily functions.
\nDisturbed metabolic processes can lead to altered metabolic products or intermediate products that are either harmful or unusable for the body. <\/p>\n
There are different types of metabolic disorders.
\nThey include several main categories, including disorders of carbohydrate metabolism, disorders of lipid metabolism, disorders of protein metabolism and disorders of mineral metabolism.
\nLipid metabolism disorders include elevated cholesterol levels, carbohydrate metabolism disorders include diabetes, protein metabolism disorders include maple syrup disease and mineral metabolism disorders include phosphate deficiency.
\nA protein metabolism disorder is an inherited disease in which the body cannot break down certain amino acids properly.
\nA common example of a mineral imbalance is phosphate deficiency.
\nThe most common form of diabetes is type 2 diabetes.
\nType 2 diabetes occurs when the body’s cells no longer respond appropriately to insulin.
\nThere are many forms of diabetes.
\nSome patients develop diabetes due to genetic defects.
\nOthers develop diabetes due to a combination of environmental and genetic factors.
\nMetabolic diseases are often hereditary.
\nThey develop when certain genes cause a lack of enzymes.
\nAs a result, metabolites accumulate in the cell.
\nMetabolites are substances that are produced during normal metabolism.
\nLysosomal storage disease is one of the most common metabolic diseases. <\/p>\n
A lysosome is a cellular organelle that is responsible for the breakdown of waste products.
\nLysosomes contain special enzymes known as acid hydrolases.
\nThe acid hydrolases break down proteins, carbohydrates and fats into smaller molecules.
\nIf lysosomes are damaged, they can no longer function normally.
\nThis leads to the accumulation of undigested substances in the cell.
\nIn addition to metabolic diseases, there are also some rare diseases that affect the eyes.
\nOne of these is macular degeneration.
\nMacular degeneration affects the central part of the retina.
\nIt is characterized by a progressive deterioration of the light-sensitive tissue of the macula.
\nThis leads to impaired vision.
\nMacular degeneration is the main cause of blindness in older adults in industrialized countries.
\nIt is caused by age-related changes in the macula.
\nAge-related macular degeneration (AMD) is divided into early AMD and late AMD.
\nEarly AMD is characterized by deposits under the retina known as drusen.
\nLate AMD includes intermediate AMD and neovascular AMD.
\nNeovascular AMD is the most severe form of AMD.
\nIt is associated with neovascularization of the choroid, i.e. abnormal growth of new blood vessels. <\/p>\n
The most well-known metabolic disorder is probably type 2 diabetes mellitus, which occurs because the pancreas does not produce enough insulin.
\nInsulin helps the glucose to enter the cells and use it to produce energy.
\nWhen there is too little insulin, blood sugar levels rise, leading to symptoms such as increased thirst, hunger, fatigue, blurred vision, frequent urination, weight loss and slow wound healing.
\nThere are three types of diabetes mellitus: type 1, type 2 and gestational diabetes.
\nType 1 diabetes usually occurs in childhood or adolescence.
\nPeople with this form of the disease have to inject themselves with insulin every day.
\nType 2 diabetes usually develops later in life, often after the age of 40.
\nMost people with type 2 diabetes do not know that they have the disease.
\nHowever, they develop high blood sugar levels and have similar symptoms to people with type 1 diabetes.
\nGestational diabetes is another form of diabetes that affects women during pregnancy.
\nWomen with gestational diabetes can manage their blood sugar through a healthy diet and regular exercise.
\nIf this is not the case, they need to take medication to lower their blood sugar. <\/p>\n
Cystinosis is a rare hereditary metabolic disorder that primarily affects the kidneys.
\nThis disease leads to an excessive accumulation of cystine in the cells.
\nAs a result, patients suffer from progressive kidney failure.
\nIn addition to the eyes, other organs such as the thyroid gland or the heart can also be affected.
\nPatients suffering from cystinosis often develop type 2 diabetes mellitus, osteoporosis, joint pain and muscle weakness.
\nIn this disease, an autosomal dominant inherited genetic defect leads to an accumulation of cystine in the lysosomes of the cells.
\nIn general, three different forms of cystinosis are distinguished: the infantile form, the juvenile form and a form that occurs in adults.
\nWhile the kidneys are primarily affected in the infantile form, only the eyes are usually affected in the adult form.
\nThe diagnosis of cystinosis is based on clinical symptoms, laboratory findings and family history. <\/p>\n
High cholesterol is a condition in which your blood contains too much fat (cholesterol).
\nThis extra fat clogs the arteries and makes it harder for the heart to pump blood around the body.
\nIt also increases the risk of having a stroke or heart attack.
\nCholesterol comes from the foods you eat.
\nFoods that contain saturated fats, trans fats and cholesterol increase the risk of developing high cholesterol.
\nThese include red meat, whole dairy products, butter, cheese, eggs, fried foods, snack cakes, doughnuts, pastries, margarine, peanut butter, ice cream, pizza, sausage and bacon.
\nThe good news is that there are ways to reduce the amount of cholesterol in your diet.
\nYou can choose lean meats instead of fatty meats, limit the amount of red meat you eat per week, eat more fish, beans and nuts, and avoid processed foods.
\nIf you already have high cholesterol, talk to your doctor about how to lower your cholesterol. <\/p>\n
Obesity is a medical term used to describe an abnormal accumulation of excessive amounts of fat on the body.
\nIn general, obesity is defined as a BMI of more than 30 kg\/m2.
\nA person who weighs 100 pounds and is 5’7″ tall would be considered obese if their BMI is 35.5 kg\/m2.
\nObesity is associated with many health problems, including high blood pressure, coronary heart disease, congestion and sleep apnea.
\nIn addition, obesity can lead to other conditions such as arthritis, osteoarthritis, gout, gallstones, varicose veins, menstrual disorders, infertility, depression, anxiety, back pain, asthma, irritable bowel syndrome, gastroesophageal reflux disease, non-alcoholic steatohepatitis and some cancers. <\/p>\n
The causes of obesity are complex and multifactorial.
\nSome people have an inherited tendency to be overweight.
\nOthers become obese due to a poor lifestyle.
\nOverweight people tend to consume more calories than they expend through physical activity.
\nThey may overeat when they feel stressed or bored.
\nEating large meals late in the evening can lead to weight gain.
\nCigarette smoking is also associated with obesity.
\nObesity is also associated with certain medications, including corticosteroids, anti-seizure medications, oral contraceptives, thyroid hormones and insulin. <\/p>\n
The most common form of obesity is simple obesity.
\nSimple obesity is when a person has excessive body fat but there is no underlying metabolic disorder.
\nPeople with simple obesity usually have no symptoms.
\nHowever, over time, simple obesity can cause serious health problems.
\nFor example, a predisposition to diabetes mellitus, to name just one example.
\nThe two can influence each other.
\nIn some cases, obesity can be caused by an underactive thyroid gland, as well as other organic aspects such as obesity-related lymphoedema.
\nSome of the metabolic disorders mentioned can have negative consequences for your eyes.
\nThere are other diseases of the internal organs that can affect your vision, such as cystinosis. <\/p>\n
Wilson’s disease is caused by mutations in the ATP7B gene.
\nThis gene encodes a transporter protein that plays a role in the transport of copper through the cell membrane into the bile canaliculi.
\nMutations in the ATP7B gene lead to impaired function of the transporter protein, resulting in reduced excretion of copper via the bile.
\nAs a result, copper accumulates in the body.
\nCopper is essential for many physiological processes, including normal metabolism, nerve conduction, bone formation and immune system function.
\nHowever, excessive amounts of copper cause serious health problems. <\/p>\n
The most common symptom of Wilson’s disease is liver dysfunction.
\nOther signs include neurological abnormalities, muscle weakness, psychiatric disorders, kidney failure and hemolytic anemia.
\nIn some patients, the first sign of Wilson’s disease is a hearing or balance disorder.
\nPeople with Wilson’s disease develop copper deposits in the liver and brain.
\nCopper is used in many enzymes, including those involved in energy metabolism.
\nWhen these enzymes are blocked, the body can no longer use energy efficiently.
\nAs a result, patients suffer from: <\/p>\n
The diagnosis of Wilson’s disease requires a combination of clinical findings and laboratory tests.
\nA blood test called the serum ceruloplasmin level helps to determine if you have Wilson’s disease.
\nIf this test is low (less than 0.2 g\/L), then you probably do not have Wilson’s disease.
\nA genetic test can also help diagnose Wilson’s disease.
\nYour doctor will ask you about family members who have had similar symptoms.
\nHe or she may order a DNA test to determine if you have inherited the mutation that causes Wilson’s disease. <\/p>\n
There is currently no cure for Wilson’s disease.
\nTreatment focuses on managing the symptoms.
\nPatients are treated with chelation therapy, which helps to remove excess copper from the body.
\nChelation therapy involves taking a drug called D-penicillamine.
\nIt binds to the excess copper and removes it from the body. <\/p>\n
Mucopolysaccharidosis syndromes are rare genetic diseases caused by mutations in one of the three enzymes involved in glycosaminoglycan metabolism.
\nThese enzymes break down glycosaminoglycans, complex carbohydrates found in connective tissue.
\nThey include heparan sulfate N-deacetylase\/N-sulfotransferase 2 (HS2ST2), beta-glucuronidase (GUSB) and alpha-L-iduronidase (IDUA).
\nMutations in HS2ST2 cause MPS IIIA, GUSB causes MPS VII, and IDUA causes MPS I. All three diseases have similar clinical symptoms. <\/p>\n
Avid fans of crime series and films will have heard of this disease at one time or another.
\nWhether it was a lady in “CSI” who made shakes from the organs of her victims and mused that this disease could sometimes be the cause of the vampire myth: The authors are only too happy to make use of this anomaly regarding enzyme processing.
\nWhat are porphyrias?
\nIn porphyria, the production of heme, the iron-containing molecule responsible for oxygen transport in the body, is disrupted.
\nThis leads to an accumulation of toxins in the liver and kidneys, causing serious health problems.
\nPorphyrias are hereditary diseases; however, there are also cases in which they occur spontaneously.
\nThere are four types of porphyria: acute intermittent porphyria (AIP), variegated porphyria (VP), hereditary coproporphyria (HCP) and delta-aminolevulinic acid dehydratase deficiency (ALAD). <\/p>\n
These variants differ depending on the type of enzyme deficiency.
\nAcute attacks are characterized by severe neurovegetative symptoms such as anxiety, depression, confusion, hallucinations, seizures, coma and even death.
\nIn some cases, there is no specific treatment.
\nHowever, it is possible to prevent seizures by avoiding triggers such as alcohol, drugs, stress and certain foods. <\/p>\n
This form of porphyria mainly occurs in women over the age of 40.
\nIt affects the skin cells and can lead to scarring and blisters.
\nPCT usually begins after the menopause.
\nIt is thought to be due to iron overload.
\nIron is needed for the production of hemoglobin, but high levels of iron can damage liver cells.
\nIn most people, the condition improves after the menopause. <\/p>\n
This form of porphyria occurs more frequently than PCT.
\nSymptoms include abdominal pain, nausea, vomiting, constipation, diarrhea, dizziness, weakness, headaches, back pain, numbness and tingling in the hands and feet.
\nThe attacks last between 5 minutes and several hours.
\nPeople with AIP often feel better after eating fatty meals.
\nThe most common form of porphyria is AIP.
\nSymptoms include abdominal pain, nausea, vomiting, constipation, diarrhea, fatigue, weakness, dizziness, headaches, confusion, memory loss, depression, anxiety, insomnia, tinnitus, hearing and vision problems.
\nPatients suffering from AIP usually experience episodes lasting several days to weeks.
\nDuring these periods, patients feel unwell and suffer from extreme fatigue.
\nThey may also complain of joint pain, muscle aches and cramps.
\nDuring an attack, blisters may form under the skin, particularly in areas exposed to sunlight.
\nThese blisters contain large amounts of urine, pus and feces.
\nIf the infection is not treated, it can spread throughout the body and lead to sepsis. <\/p>\n
HUS is an acute kidney failure that is accompanied by bloody diarrhea, fever and other signs of infection. The diagnosis is based on a clinical examination, laboratory tests, genetic tests and imaging procedures. <\/p>\n Treatment depends on the severity of the seizure. The disease is characterized by a deficiency of alpha-galactoside alpha-1,3-galactose, which is found in many animal tissues. Muscle-eye-brain disease (MEB) is a rare, severe metabolic disorder. Metabolic diseases often also affect the eyes. Metabolic diseases are often caused by genetic defects. These include rare diseases such as Fabry disease, Pompe disease, mucopolysaccharidosis types…<\/p>\n","protected":false},"author":9,"featured_media":20115,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[2],"tags":[],"class_list":["post-27908","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized"],"acf":[],"_links":{"self":[{"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/posts\/27908","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/users\/9"}],"replies":[{"embeddable":true,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/comments?post=27908"}],"version-history":[{"count":0,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/posts\/27908\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/media\/20115"}],"wp:attachment":[{"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/media?parent=27908"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/categories?post=27908"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/eyelaser.at\/en\/wp-json\/wp\/v2\/tags?post=27908"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\nHUS is caused by Shiga toxin, which is produced by bacteria that infect the intestines.
\nThe kidneys cannot filter the blood properly because they do not have a normal lining.
\nThis leads to swelling of the small intestine and bleeding into the bloodstream.
\nThe first sign of HUS is usually anemia.
\nOther symptoms include a low platelet count, abnormal clotting factors and increased amounts of protein in the urine.
\nSymptoms usually appear within 10 days of the onset of the disease.
\nTreatment includes dialysis to remove waste products from the body and antibiotics to treat infections, if present.
\nIn VP, porphyrins accumulate in the red blood cells, causing a dark purple coloration of the skin.
\nPatients may also experience itching, burning and swelling of the face, hands and feet.
\nPatients suffering from HCP may have similar symptoms to AIP patients, although the severity of the disease varies greatly from person to person.
\nIn some cases, patients may even die during an attack.
\nIn contrast, patients with ALAD do not experience any symptoms. The disturbance in blood formation can lead to <\/strong>Conjunctivitis<\/strong> come.<\/strong><\/p>\nDiagnosis<\/strong><\/h3>\n
Treatment<\/strong><\/h2>\n
\nSymptomatic therapy is sufficient for mild seizures.
\nIf necessary, anticonvulsants such as benzodiazepines and barbiturates can be used.
\nAntiepileptic drugs are indicated for patients with epileptic crises.
\nThe treatment options for porphyria depend on the type of porphyria.
\nFor example, in AIP, treatment consists of hydration, vitamin B6 supplementation, avoidance of triggers such as stress and alcohol consumption, and the use of medications such as acetylcysteine, colchicine and intravenous immunoglobulins.
\nIn VP, treatment includes avoiding exposure to light and taking medication to reduce porphyrin production.
\nIn HCP, the amount of porphobilinogen produced is reduced by changing the diet and taking certain medications. <\/p>\nFabry disease – a hereditary defect<\/strong><\/h2>\n
\nThis leads to the accumulation of glycosphingolipids with terminal galactose residues in lysosomes of endothelial cells and smooth muscle cells.
\nThese substances damage the vascular system and lead to progressive tissue destruction. <\/p>\nMuscle-eye-brain disease<\/strong><\/h2>\n
\nIt often resembles a difficult and exhausting detective search.
\nAs this is a very complex matter, we will go into it in detail in a separate article. <\/p>\nMetabolic diseases – not to be underestimated<\/strong><\/h2>\n
\nIn some cases, it may be Wilson’s disease with the characteristic Kayser-Fleisher ring in the cornea.
\nThe diagnosis is usually made by an ophthalmologist.
\nDo you have any questions or do you suffer from a metabolic disease yourself?
\nWe are at your disposal for a free consultation or an examination appointment.
\nThe focus must always be on accurate treatment of the causative disease by specialists.
\nWe will be happy to assist you in consultation with the doctors treating you and dedicate our efforts to the well-being of your eyes. <\/p>\n","protected":false},"excerpt":{"rendered":"