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Below are the most recent content updates.
✎ New: Isovaleric acidemia
Isovaleric acidemia is a genetic condition that causes a buildup of certain acids in the body, called organic acids. This buildup of organic acids is caused by genetic changes in the IVD gene and causes medical problems for people with this condition. The main health problems that people with isovaleric acidemia usually have can include poor feeding, vomiting, seizures, a lack of energy (lethargy), difficulty growing and gaining weight, developmental delay, and an odor of sweaty feet during sickness. In people with severe forms of isovaleric acidemia, these health problems can lead to more serious problems such as a coma or even death. Learn more.
✎ New: Mucolipidosis ii alpha/beta
Mucolipidosis II alpha/beta is a rare disorder. It is also called I-cell disease. It is a genetic disorder. This means that people have a problem in a specific gene. People have about 20,000-25,000 genes in their bodies. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Because of a change in a specific gene, people with mucolipidosis II lack an enzyme. This enzyme is a transport enzyme and it is needed to help other enzymes reach lysosomes. Learn more.
► Updated: Barrett’s esophagus
Barrett’s esophagus is a disorder where normal tissue of the esophagus is replaced by tissue similar to the lining of your intestine. People with Barrett’s esophagus have a higher chance to get a rare type of cancer called esophageal adenocarcinoma, however, most people with Barrett’s esophagus do not get esophageal cancer. Learn more.
► Updated: Fabry disease
Fabry disease is a progressive genetic condition that causes health problems like extreme tiredness (fatigue), little to no sweating, a reddish-purplish skin rash (angiokeratomas), burning pain in the hands and feet, problems in the heat and cold, frequent diarrhea and constipation, and early heart and kidney disease. Fabry disease happens when a person’s body does not make enough of an enzyme called alpha-galactosidase A (alpha-Gal) because they have changes or mutations in the GLA gene. When alpha-gal is not working, a fatty substance called globotriaosylceramide (GL-3 or Gb3) builds up in the body’s lysosomes (the “recycling centers” of the cell). GL3 storage leads to narrowed blood vessels that then cause health problems all over the body, particularly in the skin, kidneys, heart, brain, intestines, and nerves. Learn more.
► Updated: GNE Myopathy
GNE Myopathy (GNEM) is a form of muscular dystrophy. Muscular dystrophies are conditions that are characterized by progressive muscle weakness and muscle wasting. Individuals with GNEM begin having symptoms in their late teens or young adulthood. Learn more.
► Updated: Leber hereditary optic neuropathy
Leber hereditary optic neuropathy is a mitochondrial disease that mainly affects the eye causing painless loss of central vision in both eyes in early adulthood. Common symptoms include vision loss as well as less commonly tremor or a shaking, heartbeat irregularities, and a multiple sclerosis like condition. Learn more.
► Updated: Pompe disease
Pompe disease is a genetic condition that is caused by a specific gene in the body called GAA not working correctly. Normally, GAA makes an enzyme called alpha-glucosidase, also known as acid maltase. This enzyme breaks down glycogen in certain parts of cells called the lysosomes. Pompe disease is part of a larger group of about 50 conditions called lysosomal storage diseases, which all involve the lysosome not working properly. Learn more.
[Batch Update 2016-10-11]