fenil210/Med-Lamma huggingface dataset:
What causes Carnitine-acylcarnitine translocase deficiency ?
What causes carnitine-acylcarnitine translocase deficiency? Carnitine-acylcarnitine translocase deficiency occurs when an enzyme, called "carnitine-acylcarnitine translocase" (CAT), is either missing or not working properly. This enzyme's job is to help change certain fats in the food we eat into energy. It also helps to break down fat already stored in the body. Energy from fat keeps us going whenever our bodies run low of their main source of energy, a type of sugar called glucose. Our bodies rely on fat for energy when we don't eat for a stretch of time - like when we miss a meal or when we sleep. When the CAT normal enzyme is missing or not working well, the body cannot use fat for energy, and must rely solely on glucose. Although glucose is a good source of energy, there is a limited amount available. Once the glucose has been used up, the body tries to use fat without success. This leads to low blood sugar, called hypoglycemia, and to the build up of harmful substances in the blood. + GARD + Carnitine-acylcarnitine translocase deficiency
Is Carnitine-acylcarnitine translocase deficiency inherited ?
How is carnitine-acylcarnitine inherited? Carnitine-acylcarnitine translocase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. + GARD + Carnitine-acylcarnitine translocase deficiency
How to diagnose Carnitine-acylcarnitine translocase deficiency ?
Is there genetic testing available for carnitine-acylcarnitine translocase deficiency? Genetic testing for carnitine-acylcarnitine translocase deficiency can be done on a blood sample. Genetic testing, also called DNA testing, looks for changes in the pair of genes that cause carnitine-acylcarnitine translocase deficiency. In some affected children, both gene changes can be found. However, in other children, neither or only one of the two gene changes can be found, even though we know they are present. DNA testing is not necessary to diagnose carnitine-acylcarnitine translocase deficiency, however, it can be helpful for carrier testing or prenatal diagnosis. + GARD + Carnitine-acylcarnitine translocase deficiency
What are the treatments for Carnitine-acylcarnitine translocase deficiency ?
How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not others. When necessary, treatment are usually needed throughout life. Children with carnitine-acylcarnitine translocase deficiency should be followed by a metabolic doctor  and a dietician in addition to their primary doctor. Aggressive treatment of hypoglycemia, hyperammonemia and prevention of lipolysis (the breakdown of fat stored in fat cells) in the newborn may be lifesaving. Infants and young children with carnitine-acylcarnitine translocase deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours, although some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Sometimes a low-fat, high carbohydrate diet is advised. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy food). Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. However, supplementation with carnitine remains controversial, as its efficacy remains unknown. Medium Chain Triglyceride oil (MCT oil) is sometimes used as part of the food plan for people with carnitine-acylcarnitine translocase deficiency. This special oil has medium chain fatty acids that people with carnitine-acylcarnitine translocase deficiency can use in small amounts for energy. You may be instructed to call your child's doctor at the start of any illness. Children with carnitine-acylcarnitine translocase deficiency need to eat extra starchy food and drink more fluids during any illness (even if they may not feel hungry) or they could develop a metabolic crisis. + GARD + Carnitine-acylcarnitine translocase deficiency
What is (are) Autoimmune atrophic gastritis ?
Autoimmune atrophic gastritis is an autoimmune disorder in which the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, abdominal pain and/or vitamin deficiencies. The condition is associated with an increased risk of pernicious anemia, gastric polyps and gastric adenocarcinoma. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in some families. Treatment is based on the signs and symptoms present in each person, but may include vitamin B12 injections and endoscopic surveillance. + GARD + Autoimmune atrophic gastritis
What are the symptoms of Autoimmune atrophic gastritis ?
What are the signs and symptoms of autoimmune atrophic gastritis? In some cases, autoimmune atrophic gastritis does not cause any obvious signs and symptoms. However, some people may experience nausea, vomiting, a feeling of fullness in the upper abdomen after eating, or abdominal pain. It is often associated with impaired absorption of vitamin B12 and possibly other vitamin deficiencies (such as folate and iron). People with vitamin B12 deficiency are at risk for pernicious anemia, a condition in which the body does not have enough healthy red blood cells. Autoimmune atrophic gastritis is considered a "precancerous" condition and it may be responsible for the development of gastric adenocarcinoma or carcinoids. + GARD + Autoimmune atrophic gastritis
What causes Autoimmune atrophic gastritis ?
What causes autoimmune atrophic gastritis? Autoimmune atrophic gastritis is considered an autoimmune disorder. In people who are affected by this condition, the immune system mistakenly attacks the healthy cells of the stomach lining. Overtime, this can wear away the stomach's protective barrier and interfere with the absorption of several key vitamins (i.e. vitamin B12, iron, folate). This leads to the signs and symptoms of autoimmune atrophic gastritis. + GARD + Autoimmune atrophic gastritis
Is Autoimmune atrophic gastritis inherited ?
Is autoimmune atrophic gastritis inherited? In some cases, more than one family member can be affected by autoimmune atrophic gastritis. Although the underlying genetic cause has not been identified, studies suggest that the condition may be inherited in an autosomal dominant manner in these families. In autosomal dominant conditions, an affected person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with the condition has a 50% chance with each pregnancy of passing along the altered gene to his or her child. + GARD + Autoimmune atrophic gastritis
How to diagnose Autoimmune atrophic gastritis ?
How is autoimmune atrophic gastritis diagnosed? A diagnosis of autoimmune atrophic gastritis is generally not suspected until characteristic signs and symptoms are present. Additional testing can then be ordered to confirm the diagnosis. This generally includes: A biopsy of the affected tissue obtained through endoscopy Blood work that demonstrates autoantibodies against certain cells of the stomach + GARD + Autoimmune atrophic gastritis
What are the treatments for Autoimmune atrophic gastritis ?
How might autoimmune atrophic gastritis be treated? The treatment of autoimmune atrophic gastritis is generally focused on preventing and/or alleviating signs and symptoms of the condition. For example, management is focused on preventing vitamin B12, folate and iron deficiencies in the early stages of the condition. With adequate supplementation of these vitamins and minerals, anemia and other health problems may be avoided. If pernicious anemia is already present at the time of diagnosis, replacement of vitamin B12 is generally recommended via injections. In some cases, endoscopic surveillance may also be recommended due to the increased risk of certain types of cancer. While surgery may be appropriate for the treatment of related cancers, we are not aware of surgical management options or recommendations otherwise. Symptoms of gastritis in general may be managed with prescription or over-the-counter medications (besides antibiotics for H. pylori-associated gastritis) that block or reduce acid production and promote healing. Proton pump inhibitors reduce acid by blocking the action of the parts of cells that produce acid. Examples may include omeprazole, lansoprazole, rabeprazole, esomeprazole, dexlansoprazole and pantoprazole. Histamine (H-2) blockers reduce the amount of acid released into the digestive tract, which relieves gastritis pain and promotes healing. Examples include ranitidine, famotidine, cimetidine and nizatidine. Antacids that neutralize stomach acid and provide pain relief may also be used. We are not aware of dietary guidelines or recommendations for autoimmune atrophic gastritis. Much of the literature on dietary management of gastritis is specific to H. Pylori-associated gastritis. However, people with gastritis in general may find some relief by eating smaller, more-frequent meals; avoiding irritating foods; avoiding alcohol; switching pain relievers; and managing stress. + GARD + Autoimmune atrophic gastritis
What is (are) Dentatorubral-pallidoluysian atrophy ?
Dentatorubral-pallidoluysian atrophy (DRPLA) is a progressive brain disorder that causes involuntary movements; mental and emotional problems; and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but the condition can appear anytime from infancy to mid-adulthood. Specific signs and symptoms may differ among affected individuals and sometimes affects children and adults differently. DRPLA is caused by a mutation in the ATN1 gene and is inherited in an autosomal dominant manner. Treatment is symptomatic and supportive. + GARD + Dentatorubral-pallidoluysian atrophy
What are the symptoms of Dentatorubral-pallidoluysian atrophy ?
What are the signs and symptoms of Dentatorubral-pallidoluysian atrophy? The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus); seizures; behavioral changes; intellectual disability; and problems with balance and coordination (ataxia). Epileptic seizures occur in all individuals with onset before 20 years of age. When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia; uncontrollable movements of the limbs (choreoathetosis); psychiatric symptoms such as delusions; and deterioration of intellectual function (dementia). Seizures are less frequent in individuals with onset between the ages of 20 and 40. Seizures are rare in individuals with onset after age 40. Individuals who have inherited the condition from an affected parent typically have symptoms 26 to 29 years earlier than affected fathers, and 14 to 15 years earlier than affected mothers. The Human Phenotype Ontology provides the following list of signs and symptoms for Dentatorubral-pallidoluysian atrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Atrophy of the dentate nucleus 90% Fetal cystic hygroma 90% Ataxia 25/25 Dementia 14/25 Seizures 12/25 Nystagmus 9/25 Chorea 7/25 Myoclonus 6/25 Abnormal pyramidal signs 5/25 Autosomal dominant inheritance - Choreoathetosis - Genetic anticipation - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. + GARD + Dentatorubral-pallidoluysian atrophy
What causes Dentatorubral-pallidoluysian atrophy ?
What causes dentatorubral-pallidoluysian atrophy (DRPLA)? DRPLA is caused by a mutation in the ATN1 gene. This gene provides instructions for making a protein called atrophin 1. Although the function of atrophin 1 is unclear, it likely plays an important role in nerve cells (neurons) in many areas of the brain. The ATN1 mutation that causes DRPLA involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row on the gene. Normally, this CAG segment is repeated 6 to 35 times within the ATN1 gene. In people with DRPLA, the CAG segment is repeated at least 48 times (and sometimes much more). The abnormally long CAG trinucleotide repeat changes the structure of the atrophin 1 protein, which then accumulates in neurons and interferes with normal cell functions. The dysfunction and eventual death of these neurons lead to the signs and symptoms associated with DRPLA. + GARD + Dentatorubral-pallidoluysian atrophy
Is Dentatorubral-pallidoluysian atrophy inherited ?
How is dentatorubral-pallidoluysian atrophy (DRPLA) inherited? + GARD + Dentatorubral-pallidoluysian atrophy
What are the treatments for Dentatorubral-pallidoluysian atrophy ?
How might dentatorubral-pallidoluysian atrophy (DRPLA) be treated? There is no cure for DRPLA; treatment is generally symptomatic and supportive. Management of signs and symptoms may include:  Treatment of seizures with anti-epileptic drugs Treatment of psychiatric problems with appropriate psychotropic medications Adaptation of environment and care to the level of dementia Adaptation of educational programs for affected children. + GARD + Dentatorubral-pallidoluysian atrophy
What is (are) Cleidocranial dysplasia ?
Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations (de novo mutations) in the RUNX2 gene.  Dental problems are addressed with several procedures. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect. + GARD + Cleidocranial dysplasia
What causes Cleidocranial dysplasia ?
What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a number of other genes involved in the development of cells that build bones (osteoblasts). Some mutations change one protein building block (amino acid) in the RUNX2 protein. Other mutations result in an abnormally short protein. This shortage of functional RUNX2 protein interferes with normal bone and cartilage development, resulting in the signs and symptoms of cleidocranial dysplasia. In rare cases, affected individuals may experience additional, unusual symptoms resulting from the loss of other genes located near RUNX2. In about one-third of individuals with cleidocranial dysplasia, no mutation in the RUNX2 gene has been found. The cause of the condition in these individuals is unknown. Read more about the RUNX2 gene. + GARD + Cleidocranial dysplasia
Is Cleidocranial dysplasia inherited ?
How is cleidocranial dysplasia inherited? Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo mutations (new mutations) in the gene. These cases occur in people with no history of the disorder in their family. + GARD + Cleidocranial dysplasia
What are the treatments for Cleidocranial dysplasia ?
What treatment is available for cleidocranial dysplasia? Because there is no specific treatment for cleidocranial dysplasia, treatment is based on an individual's symptoms. Affected individuals typically require dental care due to various teeth abnormalities. People with cleidocranial dysplasia may receive supplements of calcium and vitamin D if their bone density is below normal, and preventive treatment for osteoporosis is usually started at a young age. Some affected individuals may need ear tubes if they have frequent ear infections. If the cranial vault defect is serious, it is important to protect the head wearing helmets during high-risk activities. Surgery may be needed to correct a depressed forehead or for the enlargement of  small clavicles. + GARD + Cleidocranial dysplasia
What is (are) La Crosse encephalitis ?
La Crosse (LAC) encephalitis is a mosquito-borne virus that was first described in La Crosse, Wisconsin in 1963. Since then, it has been reported in several Midwestern and Mid-Atlantic states. The LAC virus is one of many mosquito-transmitted viruses that can cause an inflammation of the brain (encephalitis). About 80-100 cases of this condition are reported each year in the United States. Most cases occur in children younger than age 16. While most people who become infected have no symptoms, those who do become ill may have fever, headache, vomiting and lethargy (tiredness). Severe cases develop encephalitis accompanied by seizures. Coma and paralysis occur in some cases. There is no specific treatment for LAC encephalitis. Supportive therapy is provided to those who develop severe cases of the disease. + GARD + La Crosse encephalitis
What are the symptoms of La Crosse encephalitis ?
What are the symptoms of La Crosse (LAC) encephalitis? Most people infected with LAC encephalitis do not have symptoms. Those that do become ill may initially have fever, headache, vomiting and lethargy (tiredness). Severe cases may develop encephalitis, an inflammation of the brain, which is often accompanied by seizures. Coma and paralysis may also occur. Most cases that develop symptoms occur in children under the age of 16 Symptoms, if present, typically develop 5 to 15 days after the bite of an infected mosquito. Most cases occur during the summer months. + GARD + La Crosse encephalitis
What are the treatments for La Crosse encephalitis ?
How might La Crosse (LAC) encephalitis be treated? There is no specific treatment for LAC encephalitis. Severe cases are treated with supportive therapy which may include hospitalization, respiratory support, IV fluids and prevention of other infections.[9633] + GARD + La Crosse encephalitis
What is (are) Muir-Torre syndrome ?
Muir-Torre syndrome (MTS) is a form of Lynch syndrome and is characterized by sebaceous (oil gland) skin tumors in association with internal cancers. The most common internal site involved is the gastrointestinal tract (with almost half of affected people having colorectal cancer), followed by the genitourinary tract. Skin lesions may develop before or after the diagnosis of the internal cancer. MTS is caused by changes (mutations) in the MLH1 or MSH2 genes and is inherited in an autosomal dominant manner. A mutation in either of these genes gives a person an increased lifetime risk of developing the skin changes and types of cancer associated with the condition. + GARD + Muir-Torre syndrome