Health and Fitness

Glycogen storage disease type 4 (GSD IV) Overview Glycogen storage disease type 4 (GSD IV), also known as Andersen disease, is a rare inherited metabolic disorder caused by a shortage of an enzyme needed to properly structure glycogen, leading to a toxic buildup of abnormal sugar molecules in the body's tissues. You can read more about the condition on the MedlinePlus Genetics guide. Symptoms Severe hypotonia: Profoundly low muscle tone ("floppy baby" syndrome) in congenital subtypes Cardiomyopathy: Weakened or dilated heart muscle leading to potential heart failure. Respiratory failure: Weakened breathing muscles causing early mortality in severe infant presentations. Neurogenic bladder: Urinary urgency, frequency, or incontinence usually appearing after age 40. Spastic paraparesis: Progressive leg stiffness, weakness, and difficulty walking.Peripheral neuropathy: Numbness, tingling, or reduced sensation in the extremities. Causes GBE1 Gene Mutations: Changes or muta...

Aromatase excess syndrome Overview Aromatase excess syndrome is a rare genetic and endocrine disorder that causes the body to produce too much estrogen A rare condition where genetic changes lead to the overexpression of the aromatase enzyme. Symptoms  Symptoms in Males   Gynecomastia: Enlargement of breast tissue, usually starting in late childhood or adolescence and lasting for life. Advanced Bone Age: Bones grow and mature much faster than normal during childhood. Short Stature: Early growth spurts cause boys to be tall as children, but premature closing of the growth plates results in a shorter final height as an adult. Feminizing Features: High estrogen can cause a higher-pitched voice, sparse facial hair, and mild hypogonadotropic hypogonadism (low testosterone levels). Normal Fertility: Ability to have children is typically unaffected despite hormone shifts. Symptoms in Females Macromastia: Excessive or early breast growth. Menstrual Irregularities: Early onset of...

ADNP Syndrome Overview ADNP syndrome, also called Helsmoortel-Van Der Aa syndrome, is a genetic disorder that affects brain development and can lead to a wide range of challenges. The symptoms can vary greatly from one child to another, but almost all affected children have developmental and intellectual delays, difficulties with motor function, delayed or absent speech and features of autism. The disorder can potentially affect multiple systems of the body including the brain, heart, immune system, gastrointestinal system, endocrine system and musculoskeletal system. Feeding and gastrointestinal issues are common, and many infants have low muscle tone (hypotonia) that can make them appear floppy. These children might also have sensory processing disorders, sleep problems and a high tolerance for pain, making it hard for parents to know when they are hurt. Most of the affected children have distinctive facial features, and many develop early primary tooth eruption and often have a happ...

Autosomal dominant tubulointerstitial kidney disease Overview Autosomal dominant tubulointerstitial kidney disease–UMOD (ADTKD-UMOD) is a rare genetic disorder caused by mutations in the UMOD gene that leads to slowly progressive chronic kidney disease and high uric acid levels Symptoms Elevated blood creatinine: Often found by chance during routine blood tests.  Decreased GFR: A drop in the glomerular filtration rate showing reduced kidney function. High uric acid and gout: High blood levels of uric acid leading to painful joint inflammation (gout) often start in the teen years for patients with specific gene types like ADTKD-UMOD. Nocturia and thirst: Waking up at night to pass urine (nocturia) or feeling an increased thirst because kidneys lose the ability to concentrate urine.  Fatigue and weakness: Extreme tiredness caused by anemia (low red blood cell count). Loss of appetite: Decreased desire to eat. High blood pressure: Can develop or modestly increase as kidney d...

  Lipoma Overview A lipoma is a slow-growing, fatty lump that most often is located between the skin and muscle layer but below the skin. It feels soft and rubbery and often isn't tender. It also moves with slight finger pressure as if not connected to the skin above. Lipomas often are detected in middle age. Some people have more than one lipoma. A lipoma isn't cancer, and it typically is harmless. Treatment generally isn't needed, but if the lipoma bothers you, or if it's painful or growing, you may want to have it removed. Symptoms Lipomas can occur anywhere in the body. They are: Just under the skin. They commonly occur in the areas of the neck, shoulders, back, abdomen, arms and thighs. Soft and doughy to the touch. They also move easily with slight finger pressure. Generally small . Lipomas are typically less than 1 to 2 inches (3 to 5 centimeters) in diameter, but they can grow. Sometimes painful . Lipomas can be painful if they grow and press on nearby nerves o...

  What is glutamate formiminotransferase deficiency? Glutamate formiminotransferase deficiency is an inherited (genetic) condition that prevents the breakdown of histidine. Histidine is an amino acid, one of the building blocks that makes up proteins. Formiminotransferase cyclodeaminase (FTCD) is an enzyme in your body that helps break down histidine. This enzyme also helps make an important vitamin called folate. Without enough working FTCD enzyme, your baby will have trouble breaking down histidine and making folate. Most babies with glutamate formiminotransferase deficiency are well or have very few signs and symptoms. Glutamate formiminotransferase deficiency may be detected by newborn screening. Newborn screening requires collecting a small amount of blood from your baby’s heel. To learn more about this process, visit the Blood Spot Screening page. Screening measures how much of certain substances (called acylcarnitines) are in your baby’s blood. While looking at acylcarnitine...