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Beta-ketothiolase deficiency

Beta-ketothiolase deficiency Overview Beta-ketothiolase deficiency is a rare inherited metabolic disorder that stops the body from properly processing the amino acid isoleucine and ketone bodies. Caused by mutations in the ACAT1 gene, it leads to harmful ketoacidotic crises triggered by fasting or common infections Symptoms Signs of a Metabolic Crises Children with this condition are typically healthy between episodes, but attacks can be triggered by infections, fasting, or high-protein meals. Common signs include: Severe vomiting and poor appetitee Extreme lack of energy or sleepiness (lethargy)Trouble breathing or fast breathing (tachypnea)Dehydration Unusual fruity or sweet-smelling breath/urine Seizures or convulsionss Loss of consciousness or coma in severe cases Long-Term Effects Most children recover quickly if treated during an attack.Repeated or severe untreated crises can lead to developmental delays or intellectual disability.Symptoms often become less frequent or severe as ...
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Autoimmune Lymphoproliferative Syndrome (ALPS)

Autoimmune Lymphoproliferative Syndrome (ALPS) What Is Autoimmune Lymphoproliferative Syndrome? Autoimmune lymphoproliferative syndrome (ALPS) is a condition that makes your body produce too many immune cells. You’ll have far more lymphocytes (a type of white blood cell) than you need. These extra cells also won’t break down when they should. Normally, your body uses lymphocytes to protect you and keep you healthy. When your immune system detects dangerous cells, it creates and sends lymphocytes to attack them. But if you have ALPS, your body can’t keep track of making the right amount. It will constantly make too many. Without targets to attack, the extra lymphocytes damage your body instead of protecting it. Having ALPS can lead to damage in organs and cells throughout your body, including your: Lymph nodes Spleen Blood cells Kidneys Liver Nerves Blood vessels Eyes Symptoms Autoimmune lymphoproliferative syndrome symptoms ALPS symptoms vary. Which ones you have will depend on where t...
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Alpha-Mannosidosis

Alpha-Mannosidosis Overview Alpha-mannosidosis is a rare genetic disorder characterized by a deficiency of the enzyme alpha-D-mannosidase. Alpha-mannosidosis is best thought of as a continuum of disease that is generally broken down into three forms: a mild, slowly progressive form (type 1); a moderate form (type 2); and a severe, often rapidly progressive and potentially life-threatening form (type 3). The symptoms and severity of the disorder are highly variable. Symptoms may include distinctive facial features, skeletal abnormalities, hearing loss, intellectual disability and dysfunction of the immune system. Alpha-mannosidosis is caused by changes (variants or mutations) in the MAN2B1 gene. This condition is inherited in an autosomal recessive pattern. Alpha-mannosidosis belongs to a group of diseases known as the lysosomal storage disorders. Lysosomes are particles bound in membranes within cells that function as the primary digestive units. Enzymes within the lysosomes break down...
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Alpers-Huttenlocher syndrome

Alpers-Huttenlocher syndrome Overview Alpers disease is a rare mitochondrial disease that affects your brain, liver and muscles. Alpers disease leads to: Dementia. Liver failure. Seizures. You can show symptoms of Alpers disease anytime between ages 1 month and 36 years. But symptoms usually start in early childhood, most commonly between ages 2 and 4. Others may develop the disease later, usually between ages 17 and 24. This condition is most often fatal. Defects in a gene cause Alpers disease, an inherited disorder passed down through families. You have Alpers disease from birth, but people usually don’t notice symptoms for weeks or years. Other names for Alpers disease include: Alpers-Huttenlocher syndrome. Alpers syndrome. Diffuse cerebral degeneration in infancy. Progressive cerebral poliodystrophy. Progressive infantile poliodystrophy. Symptoms Seizures (refractory epilepsy) are usually the first symptom to appear. The other main symptoms are: Liver disease. Slowing down of think...
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Allergic Asthma

Allergic Asthma Overview What is allergic asthma? Allergic or allergy-induced asthma is a condition where your airways tighten when you breathe in an allergen. Most often, these allergens are in the air — like dust mites, pollen, animal dander or mold spores. When you have allergies, your body creates a response to something it thinks is a threat — the allergen. Your immune system fires up all of its defenses to try and fight off this danger. Your immune system releases various chemicals that cause inflammation, or swelling, and squeezing of your airways upon exposure to an allergen Symptoms What are the symptoms of allergic asthma? If you have allergic asthma, you may have many of the same symptoms you’d experience with other types of asthma. These symptoms can include: Feeling short of breath. Coughing frequently, especially at night. Wheezing (a whistling noise during breathing). Experiencing chest tightness (feeling like something is pressing on your chest). Allergen exposure can a...
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Glossophobia

Glossophobia What is glossophobia? Glossophobia isn’t a dangerous disease or chronic condition. It’s the medical term for the fear of public speaking. And it affects as many as four out of 10 Americans. For those affected, speaking in front of a group can trigger feelings of discomfort and anxiety. With this can come uncontrollable trembling, sweating, and a racing heartbeat. You may also have an overwhelming urge to run out of the room or away from the situation that is causing you stress. Glossophobia is a social phobia, or social anxiety disorder. Anxiety disorders go beyond occasional worrying or nervousness. They cause strong fears that are out of proportion to what you’re experiencing or thinking about. Anxiety disorders often get worse over time. And they can interfere with your ability to function under some circumstances. What does glossophobia feel like? When faced with having to give a presentation, many people experience the classic fight-or-flight response. This is the bod...
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Vitamin K2 deficiency

Vitamin K2 deficiency Overview Vitamin K2 deficiency can lead to excessive bleeding, weak bones, and hardened blood vessels. While rare in healthy adults, it can result from poor diet, gut absorption problems, or certain medicines Symptoms Bleeding and Clotting Signs Easy bruising: Developing large or unexplained bruises from minor bumps. Prolonged bleeding: Bleeding that takes a long time to stop from small cuts, nosebleeds, or bleeding gums.Hidden bleeding: Passing dark, tar-like black stools or noticing blood in urine. Small clots: Tiny blood clots forming underneath your fingernails or toenails. Bone and Heart Signs Weak bones: Lower bone density that can lead to a higher risk of fractures or osteoporosis over time. Dental issues: Teeth that may become more prone to decay or poor mineralization. Vascular calcification: Long-term buildup of calcium in soft tissues and arteries, which affects heart health. Causes Poor diet: Eating few animal products or fermented foods like natt...
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