Madisons Foundation - Moms And Dads In Search Of Needed Support

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Propionic acidemia (PA) is an inherited metabolic disorder characterized by the deficiency of an enzyme called propionyl-CoA carboxylase (PCC). PCC is involved in the breakdown of protein into amino acids, which are the building blocks of protein. With a lack of this enzyme functioning properly, the child cannot tolerate the normal amount of dietary protein. This leads to a build up of products...

Protein losing enteropathy (PLE) is a disorder of the gastro-intestinal (GI) tract that involves excessive loss of important plasma proteins into the intestines. The body is not able to produce enough proteins to make up for the loss. This leads to severe bouts of diarrhea and clinical signs indicating low protein levels, such as swelling, malnutrition and immune system problems. PLE can result...

Proteus Syndrome is characterized by overgrowth of multiple parts of the body including the skin, bones, organs (such as the spleen), and other tissues. The signs and symptoms of this disorder can vary a great deal in terms of which parts of the body are affected, the extent or severity of symptoms and other related medical complications. Because of the variability, diagnosis and management can be...

Prune Belly Syndrome is a rare disease that causes 3 main characteristics: (1) the stomach muscles do not form properly, (2) the testes on both sides do not descend into the scrotum, (3) and there are problems with the development of the urinary tract system. This disorder can also affect other parts of the body, including the lungs, arms and legs. This disorder was originally named the prune bell...

Pseudotumor cerebri is a rare condition characterized by increased pressure in the skull (intracranial pressure, ICP) not caused by any structural brain abnormalities. The name literally means “false brain tumor” because this condition presents with severe headache, nausea and vomiting, mimicking a brain tumor. However, there is no brain tumor present in this condition. Pseudotumor cerebri is not...

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Full disease list by letter:
3 | A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | R | S | T | U | V | W | X | Y | Z | All