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Showing posts from April, 2019

101-About Porphyria from NIH

About Porphyria The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. What is porphyria? The porphyrias are a group of different diseases, each caused by a specific abnormality in the heme production process. Heme is a chemical compound that contains iron and gives blood its red color. The essential functions of heme depend on its ability to bind oxygen. Heme is incorporated into hemoglobin, a protein that enables red blood cells to carry oxygen from the lungs to all parts of the body. Heme also plays a role in the liver where it assists in breaking down chemicals (including some drugs and hormones) so that they are easily removed from the body. Heme is produced in the bone marrow and liver through a complex process controlled by eight different enzymes. As this production process of heme progresses, several different intermediate compounds (heme precursors) are created and modified. If one of the essential enzymes in …

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)?

What is δ-Aminolevulinic Acid Dehydratase Porphyria (ADP)? ADP is more severe than the other acute porphyrias and can present in childhood. It is an inherited genetic condition, but is extremely rare. Only ~10 cases have been reported worldwide and all of the reported cases have been males, in contrast to the other acute porphyrias where more women have symptoms. In ADP, the gene responsible is ALAD which produces the enzyme δ-aminolevulinic acid dehydratase. When this enzyme is working properly, porphyrins build up and can cause symptoms similar to those seen in AIP. How is δ-Aminolevulinic Acid Dehydratase Porphyria diagnosed? Biochemical testing means looking for “biomarkers” in the blood or urine. To diagnose ADP, measurements of porphobilinogen (PBG), aminolevulinic acid (ALA), and total porphyrins in the urine should be done. Also porphyrins in the blood should be measured. The level of PBG in the body can vary so the best time to take samples is during an acute attack (e.g. wh…

Mr. Cubas is very RARE with ADP!

TYPE OF PORPHYRIA ALAD Porphyria (ADP) MEET MILTON CUBAS, APF Member and ALAD Porphyria (ADP) patient.
My name is Milton Eduardo Cubas and I am 29 years old. Sports and I physical activities with others are two of my favorite things. My current studies at Miami Dade College are to become a math teacher. I had my first porphyria attack in a very hot summer day of 2000 at a castle in Cartagena, Colombia named Castillo San Felipe de Barajas. I was with family members and I remember feeling fatigued while taking a tour of the castle. I drank a whole bottle of water after leaving. Once I got in a taxi I felt nausea. I felt tired. We stopped to eat something but I would vomit water until nothing would come out. I had gone to hospitals in Colombia and they couldn’t find anything. I remember feeling a lot of pain while looking for anyone to tell me what is going on. I had to cut my trip to Colombia short because we couldn’t find anyone to help me and my pain was getting worse. I we…

What is Variegate Porphyria (VP)?

What is Variegate Porphyria (VP)? VP is an inherited genetic condition with similar clinical signs and symptoms as AIP, but  is more rare than AIP. VP is especially common in South African individuals of Dutch ancestry, where it has been estimated that 3 in 1,000 of the Caucasian population is affected. In VP, the gene responsible is PPOX which produces the enzyme coproporphyinogen oxidase, and without this enzyme working properly porphyrins build up and can cause symptoms similar to those seen in AIP. However the acute attacks can be milder in people with VP when compared to AIP. Patients with VP have the same slightly increased risk of liver cancer that AIP patients have. Unlike AIP, people with VP can also have blistering on their skin in response to sun exposure and the primary affected areas are on the back of the hands and face. The occurrence of blistering skin lesions are much more common in VP than in HCP and are not easily treated. The only effective preventive measure is u…

Get one on one with Alie Campbell living with VP

PORPHYRIA and ME TYPE OF PORPHYRIA Variegate Porphyria (VP) My story is probably not much different than most. I was misdiagnosed most of my life, sent to psychologists because physicians just couldn't find a cause for my illness. Finally, after an incorrect Lupus diagnosis and a week of testing, I received my Variegate Porphyria diagnosis. As a child growing up in Tampa, FL, I would constantly complain that the sun hurt my skin and my eyes but "children" were not supposed to wear sun glasses. Today I am rarely seen without them, day or night. I craved sweets and of course "children" should not eat too much sugar! I went to a boarding school most of my life and "they" had the same rules about sun protection and sweets the same as my parents. For reasons like this, I have always wanted to write a book "If you Can't See it...It Must Not Be Real" for all of "us" who are ill but it can't be seen, and so it must be …

Pakistan Ambassador Abdul Waheed Butt with CEP

ABDUL WAHEED BUTT TYPE OF PORPHYRIA Congenital Erythropoietic Porphyria (CEP) My name is Abdul Waheed Butt. I lived in Pakistan I am facing skin problem name “Congenital Erythropoietic Porphyria (Gunther Disease) CEP. When I was born, I was completely normal like other children. When I was 2-months-old, my mother cut my hand nails there are starting water from it. When the nails water touch my face it becomes Water Blisters on my whole face. My parents checked me from so many Doctors in Pakistan, but they have no idea or treatment how to solve that problem. At-last, we found a skin specialist Dr. Ishfaq Ahmed who said that the disease name is CEP. He advised me to avoid sunlight and covered when I go out. The only treatment of this disease is to avoid sunlight. Then my parents covered me all the time for my safety as they can. When I was 7-years-old the effect of the disease is gradually decreased and the Blisters which are appeared automatically are disappeared. But there are so many s…

What is Gunther Disease~ CEP

Información en español
Other Names: Porphyria, congenital erythropoietic; CEP; Günther disease; See More Categories: Blood DiseasesCongenital and Genetic DiseasesKidney and Urinary DiseasesSee More This disease is grouped under: Porphyria Summary Listen Congenital erythropoietic porphyria (CEP) is the rarest type of porphyria and is commonly seen in infancy.[1]  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands.[2][3] Photosensitivity and infection may cause the loss of fingers and facial features.[1] Sympto