DiseasesChemicals and Drugs
Coproporphyria, HereditaryCoproporphyrinsCoproporphyrinogen OxidasePorphyrias, HepaticPorphyriasPorphyrinogensPorphyrinsPorphyria, Acute IntermittentPorphyria, ErythropoieticPorphyria, VariegatePorphyria Cutanea TardaHydroxymethylbilane Synthase
Coproporphyria, Hereditary
An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS.
Coproporphyrins
Porphyrins with four methyl and four propionic acid side chains attached to the pyrrole rings. Elevated levels of Coproporphyrin III in the urine and feces are major findings in patients with HEREDITARY COPROPORPHYRIA.
Coproporphyrinogen Oxidase
An enzyme that catalyzes the oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX by the conversion of two propionate groups to two vinyl groups. It is the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME, and is encoded by CPO gene. Mutations of CPO gene result in HEREDITARY COPROPORPHYRIA.
Porphyrias, Hepatic
A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues.
Porphyrias
A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues.
Porphyrinogens
Colorless reduced precursors of porphyrins in which the pyrrole rings are linked by methylene (-CH2-) bridges.
Porphyrins
A group of compounds containing the porphin structure, four pyrrole rings connected by methine bridges in a cyclic configuration to which a variety of side chains are attached. The nature of the side chain is indicated by a prefix, as uroporphyrin, hematoporphyrin, etc. The porphyrins, in combination with iron, form the heme component in biologically significant compounds such as hemoglobin and myoglobin.
Porphyria, Acute Intermittent
An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine.
Porphyria, Erythropoietic
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS.
Porphyria, Variegate
An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen.
Porphyria Cutanea Tarda
An autosomal dominant or acquired porphyria due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in the LIVER. It is characterized by photosensitivity and cutaneous lesions with little or no neurologic symptoms. Type I is the acquired form and is strongly associated with liver diseases and hepatic toxicities caused by alcohol or estrogenic steroids. Type II is the familial form.
Hydroxymethylbilane Synthase
An enzyme that catalyzes the tetrapolymerization of the monopyrrole PORPHOBILINOGEN into the hydroxymethylbilane preuroporphyrinogen (UROPORPHYRINOGENS) in several discrete steps. It is the third enzyme in the 8-enzyme biosynthetic pathway of HEME. In humans, deficiency in this enzyme encoded by HMBS (or PBGD) gene results in a form of neurological porphyria (PORPHYRIA, ACUTE INTERMITTENT). This enzyme was formerly listed as EC 4.3.1.8

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria. (1/6)

Hereditary coproporphyria (HCP), an autosomal dominant acute hepatic porphyria, results from mutations in the gene that encodes coproporphyrinogen III oxidase (CPO). HCP (heterozygous or rarely homozygous) patients present with an acute neurovisceral crisis, sometimes associated with skin lesions. Four patients (two families) have been reported with a clinically distinct variant form of HCP. In such patients, the presence of a specific mutation (K404E) on both alleles or associated with a null allele, produces a unifying syndrome in which hematological disorders predominate: 'harderoporphyria'. Here, we report the fifth case (from a third family) with harderoporphyria. In addition, we show that harderoporphyric patients exhibit iron overload secondary to dyserythropoiesis. To investigate the molecular basis of this peculiar phenotype, we first studied the secondary structure of the human CPO by a predictive method, the hydrophobic cluster analysis (HCA) which allowed us to focus on a region of the enzyme. We then expressed mutant enzymes for each amino acid of the region of interest, as well as all missense mutations reported so far in HCP patients and evaluated the amount of harderoporphyrin in each mutant. Our results strongly suggest that only a few missense mutations, restricted to five amino acids encoded by exon 6, may accumulate significant amounts of harderoporphyrin: D400-K404. Moreover, all other type of mutations or missense mutations mapped elsewhere throughout the CPO gene, lead to coproporphyrin accumulation and subsequently typical HCP. Our findings, reinforced by recent crystallographic results of yeast CPO, shed new light on the genetic predisposition to HCP. It represents a first monogenic metabolic disorder where clinical expression of overt disease is dependent upon the location and type of mutation, resulting either in acute hepatic or in erythropoietic porphyria.  (+info)

Structural basis of hereditary coproporphyria. (2/6)

Hereditary coproporphyria is an autosomal dominant disorder resulting from the half-normal activity of coproporphyrinogen oxidase (CPO), a mitochondrial enzyme catalyzing the antepenultimate step in heme biosynthesis. The mechanism by which CPO catalyzes oxidative decarboxylation, in an extraordinary metal- and cofactor-independent manner, is poorly understood. Here, we report the crystal structure of human CPO at 1.58-A resolution. The structure reveals a previously uncharacterized tertiary topology comprising an unusually flat seven-stranded beta-sheet sandwiched by alpha-helices. In the biologically active dimer (K(D) = 5 x 10(-7) M), one monomer rotates relative to the second by approximately 40 degrees to create an intersubunit interface in close proximity to two independent enzymatic sites. The unexpected finding of citrate at the active site allows us to assign Ser-244, His-258, Asn-260, Arg-262, Asp-282, and Arg-332 as residues mediating substrate recognition and decarboxylation. We favor a mechanism in which oxygen serves as the immediate electron acceptor, and a substrate radical or a carbanion with substantial radical character participates in catalysis. Although several mutations in the CPO gene have been described, the molecular basis for how these alterations diminish enzyme activity is unknown. We show that deletion of residues (392-418) encoded by exon six disrupts dimerization. Conversely, harderoporphyria-causing K404E mutation precludes a type I beta-turn from retaining the substrate for the second decarboxylation cycle. Together, these findings resolve several questions regarding CPO catalysis and provide insights into hereditary coproporphyria.  (+info)

Neurovisceral porphyrias: what a hematologist needs to know. (3/6)

The acute or inducible hepatic porphyrias comprise four inherited disorders of heme biosynthesis. They usually remain asymptomatic for most of the lifespan of individuals who inherit the specific enzyme deficiencies but may cause life-threatening attacks of neurovisceral symptoms. Failure to consider the diagnosis frequently delays effective treatment, and inappropriate diagnostic tests and/or mistaken interpretation of results may lead to misdiagnosis and inappropriate treatment. The four disorders are ALA dehydratase deficiency porphyria, acute intermittent porphyria, hereditary coproporphyria, and variegate porphyria. Other conditions that clinically and biochemically may mimic acute porphyria include lead poisoning and hereditary tyrosinemia type I. The diagnosis of one of these acute porphyric syndromes should be considered in many patients with otherwise unexplained abdominal pain, severe constipation, systemic arterial hypertension, or other characteristic symptoms. Critical to the rapid diagnosis of the three most common of these disorders is demonstration of markedly increased urinary porphobilinogen (PBG) in a single-void urine specimen. The treatment of choice for all but mild attacks of the acute porphyrias is intravenous hemin therapy, which should be started as soon as possible. Intravenous glucose alone is recommended only for mild attacks (no weakness or hyponatremia) or until hemin is available.  (+info)

Harderoporphyria due to homozygosity for coproporphyrinogen oxidase missense mutation H327R. (4/6)

 (+info)

Digenic inheritance of mutations in the coproporphyrinogen oxidase and protoporphyrinogen oxidase genes in a unique type of porphyria. (5/6)

 (+info)

Lamotrigine in the treatment of psychotic depression associated with hereditary coproporphyria -- case report and a brief review of the literature. (6/6)

OBJECTIVE: We report a successful treatment with lamotrigine of a patient with hereditary coproporphyria presenting with affective and psychotic symptoms. CASE REPORT: M.F., a 38-year-old, single woman was admitted to an acute psychiatric ward because of suddenly emerging psychosis. Ms F's hereditary coproporphyria was diagnosed 9 years before the current admission. While on treatment with olanzapine (20mg/day) the psychotic symptoms have gradually disappeared. In view of her significant mood fluctuations predominantly with depressed phases, lamotrigine was started and titrated up to 125 mg/day. Ms F's mood gradually became euthymic, suicidal ideations and anxiety disappeared. At 5-month follow-up, while still on lamotrigine, her porphyria was asymptomatic. CONCLUSION: To the best of our knowledge, this is the first report about the safe administration of lamotrigine in hereditary coproporphyria. Lamotrigine did not trigger an acute porphyric attack as confirmed by clinical and laboratory findings.  (+info)

Coproporphyria, Hereditary is a group of rare genetic disorders that affect the body's ability to produce heme, a component of hemoglobin in red blood cells. Heme is also responsible for the production of bile salts, which aid in digestion. The lack of heme can lead to neurological symptoms, anemia, and liver dysfunction.

There are several types of coproporphyria, including:

1. Coproporphyria type I (CP I): This is the most common form of the disorder and is caused by mutations in the CPOX gene. Symptoms typically appear during infancy or childhood and can include seizures, developmental delays, and liver problems.
2. Coproporphyria type II (CP II): This form of the disorder is caused by mutations in the FECH gene and typically affects adults. Symptoms can include neurological problems, such as seizures and nerve damage, as well as liver dysfunction.
3. Coproporphyria type III (CP III): This rare form of the disorder is caused by mutations in the PPOX gene and typically affects children. Symptoms can include seizures, developmental delays, and liver problems.
4. Hereditary coproporphyria (HCP): This is a milder form of the disorder that is caused by mutations in the CPOX or FECH gene. Symptoms can include neurological problems, such as seizures and nerve damage, as well as liver dysfunction.

There is no cure for coproporphyria, but treatment options are available to manage symptoms and prevent complications. These can include medications to reduce seizures and inflammation, as well as dietary changes and liver transplantation in severe cases. Early diagnosis and management of the disorder can help improve quality of life for individuals affected by coproporphyria.

Porphyrias, Hepatic: A group of rare genetic disorders characterized by defective heme biosynthesis in the liver, which leads to the accumulation of toxic intermediate compounds and the damage of liver cells. The disorders are classified into three main types: acute intermittent porphyria (AIP), porphyria cutanea tarda (PCT), and hereditary coproporphyria (HCP). Symptoms include abdominal pain, nausea, vomiting, constipation, and neurological symptoms such as seizures, confusion, and psychosis. Treatment is focused on managing symptoms and avoiding trigger factors such as alcohol, barbiturates, and sulfonamides.

Note: Porphyria is a medical emergency and requires immediate attention if symptoms persist or worsen over time.

Porphyria is a group of rare genetic disorders that can affect the skin and nervous system. The condition is caused by mutations in the genes responsible for producing heme, a component of hemoglobin and myoglobin. These mutations lead to an accumulation of toxic substances in the body, which can cause a range of symptoms including abdominal pain, nausea, vomiting, and constipation.

There are several types of porphyria, each with different symptoms and characteristics. Some of the most common types include:

1. Acute intermittent porphyria (AIP): This is the most common form of porphyria, and it is characterized by sudden episodes of severe abdominal pain, nausea, vomiting, and constipation. These episodes can be triggered by factors such as alcohol, certain medications, and hormonal changes.
2. Hereditary coproporphyria (HCP): This type of porphyria is caused by a deficiency of the enzyme coproporphyrinogen oxidase, which is needed to produce heme. Symptoms of HCP include abdominal pain, nausea, vomiting, and constipation, as well as neurological symptoms such as seizures, confusion, and memory loss.
3. Porphyria cutanea tarda (PCT): This type of porphyria is characterized by skin symptoms, including blistering, itching, and sensitivity to sunlight. PCT can also cause liver damage and an increased risk of skin cancer.
4. Congenital erythropoietic porphyria (CEP): This is a rare and severe form of porphyria that is present at birth. CEP is characterized by anemia, enlarged liver and spleen, and a high risk of infection.

There is no cure for porphyria, but treatment options are available to manage symptoms and prevent complications. These may include avoiding triggers such as alcohol and certain medications, taking medications to relieve symptoms, and receiving regular monitoring and supportive care. In some cases, a liver transplant may be necessary.

Porphyria is a complex and rare group of disorders that can have a significant impact on quality of life. With proper diagnosis and management, however, it is possible for individuals with porphyria to lead full and active lives.

Porphyria, acute intermittent (AI) is a rare genetic disorder that affects the production of heme, a component of hemoglobin in red blood cells. It is characterized by recurring episodes of abdominal pain, nausea, vomiting, and diarrhea, as well as neurological symptoms such as seizures, confusion, and paralysis.

The symptoms of AI porphyria are caused by the buildup of toxic substances in the body, particularly in the nervous system and the gastrointestinal tract. These symptoms can be triggered by factors such as alcohol consumption, fasting, and certain medications.

There is no cure for AI porphyria, but treatment options are available to manage symptoms and prevent complications. These may include medications to reduce nausea and vomiting, anticonvulsants to prevent seizures, and blood transfusions to increase hemoglobin levels. In severe cases, a liver transplant may be necessary.

Preventative measures for AI porphyria include avoiding triggers such as alcohol and fasting, taking medications as prescribed by a healthcare provider, and maintaining a consistent diet. Regular monitoring and follow-up with a healthcare provider are also important to manage the condition effectively.

Porphyria, erythropoietic is a rare genetic disorder that affects the production of hemoglobin and red blood cells in the body. It is caused by mutations in the UMOD gene, which codes for the uromodulin protein. The disorder leads to an overproduction of porphyrins, which are organic compounds that are toxic to red blood cells. This can cause a range of symptoms including anemia, weakness, and abdominal pain. Treatment is typically focused on managing symptoms and preventing complications such as kidney damage and infection.

Slide 2: Symptoms of Porphyria, Erythropoietic

Symptoms of porphyria, erythropoietic can vary in severity and may include:

1. Anemia: A low red blood cell count can lead to fatigue, weakness, and shortness of breath.
2. Weakness and abdominal pain: Porphyrins can accumulate in the abdomen and cause pain and discomfort.
3. Pale skin and mucous membranes: A lack of red blood cells can lead to pale skin and mucous membranes.
4. Nausea and vomiting: Porphyrins can cause nausea and vomiting.
5. Increased risk of infection: Porphyria, erythropoietic can increase the risk of infection due to a weakened immune system.
6. Kidney damage: Prolonged exposure to porphyrins can damage the kidneys and lead to chronic kidney disease.
7. Seizures and mental changes: In severe cases, porphyria, erythropoietic can cause seizures and mental changes such as confusion and disorientation.

Slide 3: Causes and Diagnosis of Porphyria, Erythropoietic

Causes:

1. Mutations in the UMOD gene: The UMOD gene provides instructions for making a protein called uromodulin, which is produced in the kidneys and plays a role in regulating the production of red blood cells. Mutations in this gene can lead to the development of porphyria, erythropoietic.
2. Familial history: There is a strong familial component to porphyria, erythropoietic, and individuals with a family history of the condition are more likely to develop it.

Diagnosis:

1. Physical examination: A physical examination may reveal signs such as abdominal pain, nausea and vomiting, and pale skin and mucous membranes.
2. Blood tests: Blood tests can be used to measure the levels of porphyrins in the blood and to diagnose the condition.
3. Urine tests: Urine tests may also be used to diagnose the condition and to rule out other conditions that may cause similar symptoms.
4. Genetic testing: Genetic testing may be used to identify mutations in the UMOD gene that are associated with porphyria, erythropoietic.

Slide 4: Treatment and Management of Porphyria, Erythropoietic

Treatment and management of porphyria, erythropoietic, typically involve a combination of medications, dietary changes, and avoiding triggers that can exacerbate the condition. The goal of treatment is to manage symptoms, prevent complications, and improve quality of life.

Treatment options may include:

1. Medications: Medications such as hydrochloroquine and chloroquine may be used to reduce the production of porphyrins in the body.
2. Dietary changes: Avoiding certain foods that are high in porphyrins, such as liver and other organ meats, can help reduce the symptoms of the condition.
3. Phototherapy: Exposure to specific wavelengths of light can help reduce the production of porphyrins in the body.
4. Blood transfusions: In severe cases of porphyria, erythropoietic, blood transfusions may be necessary to increase the levels of normal red blood cells in the body.
5. Liver transplantation: In some cases, liver transplantation may be necessary to treat the condition.

Slide 5: Prognosis and Quality of Life

The prognosis for patients with porphyria, erythropoietic, is generally good if the condition is properly managed. With appropriate treatment, most patients can lead a normal life expectancy and have a good quality of life. However, some patients may experience recurrent episodes of symptoms, which can impact their quality of life.

It is important for patients with porphyria, erythropoietic, to work closely with their healthcare provider to manage their condition and prevent complications. Patients should also be aware of the signs and symptoms of the condition and seek medical attention if they experience any new or worsening symptoms.

Slide 6: Prevention

Preventing porphyria, erythropoietic, is challenging, as it is a genetic condition that cannot be cured. However, there are some steps that can be taken to reduce the risk of developing the condition or exacerbating symptoms. These include:

1. Avoiding triggers: Patients should avoid triggers that can exacerbate the condition, such as certain medications, alcohol, and smoking.
2. Maintaining a healthy diet: Eating a balanced diet that is rich in fruits, vegetables, and whole grains can help to prevent nutritional deficiencies and reduce symptoms.
3. Getting regular exercise: Regular exercise can help to improve overall health and reduce the risk of complications.
4. Managing stress: Stress can exacerbate symptoms of porphyria, erythropoietic, so it is important for patients to find ways to manage stress, such as through relaxation techniques or therapy.
5. Avoiding exposure to certain chemicals: Patients should avoid exposure to certain chemicals that can trigger the condition, such as lead and other heavy metals.

Slide 7: Current Research

Research into porphyria, erythropoietic, is ongoing, and there are several current research studies focused on improving the diagnosis and treatment of the condition. Some of these studies include:

1. Investigating new treatments: Researchers are exploring new treatments for porphyria, erythropoietic, including gene therapy and other innovative approaches.
2. Improving diagnostic testing: Researchers are working to develop more accurate and reliable diagnostic tests for the condition, which could help to improve early detection and treatment.
3. Understanding the genetics of the condition: Scientists are studying the genetic factors that contribute to the development of porphyria, erythropoietic, in order to better understand the underlying causes of the condition.
4. Investigating the role of environmental triggers: Researchers are exploring the role of environmental triggers, such as exposure to certain chemicals, in the development of porphyria, erythropoietic.

Slide 8: Future Outlook

The future outlook for patients with porphyria, erythropoietic, is generally good if the condition is properly managed and treated. With ongoing research and advances in medical technology, there is hope for improving diagnostic testing and developing new and more effective treatments for the condition. Some of the potential future developments that could improve the outlook for patients with porphyria, erythropoietic, include:

1. New treatments: Researchers are exploring new treatments for porphyria, erythropoietic, such as gene therapy and stem cell transplantation.
2. Improved diagnostic testing: As diagnostic testing improves, it is likely that more patients will be diagnosed with the condition earlier in life, which could lead to better outcomes.
3. Increased awareness: Greater awareness of porphyria, erythropoietic, among healthcare professionals and the general public could help to improve early detection and treatment of the condition.

Slide 9: Conclusion

Porphyria, erythropoietic, is a rare genetic disorder that affects the production of heme, a vital component of hemoglobin. While there is currently no cure for the condition, ongoing research is exploring new treatments and diagnostic tools to improve outcomes for patients. With increased awareness and advances in medical technology, it is hopeful that the future outlook for patients with porphyria, erythropoietic, will continue to improve.

Slide 10: References

References:

* National Organization for Rare Disorders (NORD). (2022). Porphyria, Erythropoietic. Retrieved from
* Genetic and Rare Diseases Information Center (GARD). (2022). Porphyria, Erythropoietic. Retrieved from
* American Porphyria Foundation. (2022). Erythropoietic Porphyria. Retrieved from

Porphyria, variegate: A rare inherited disorder characterized by blistering and scarring of sun-exposed areas of the skin, especially the face, hands, and arms. It is caused by a deficiency of the enzyme porphobilinogen deaminase, which is necessary for the production of heme, a component of hemoglobin. Symptoms include blistering, itching, and pain in sun-exposed areas, as well as an increased risk of skin cancer. Treatment typically involves avoiding sun exposure and using protective clothing and sunscreens, as well as medications to reduce symptoms and prevent complications. Also known as variegate porphyria or EPP (erythropoietic protoporphyria).

Porphyria cutanea tarda (PCT) is a rare genetic disorder that affects the skin and nervous system. It is caused by mutations in the uroporphyrinogen III synthase (UROD) gene, which is responsible for producing heme, a component of hemoglobin and myoglobin. The accumulation of porphyrins in the body leads to symptoms such as skin blistering, scarring, and increased risk of liver damage and cancer.

PCT typically affects adults in their 40s and 50s, with a slight predominance in males. The main symptoms include:

* Skin manifestations: PCT is characterized by blistering and scarring on sun-exposed areas, such as the face, hands, and arms. The skin lesions are usually painful and may be accompanied by itching.
* Nervous system manifestations: Some individuals with PCT may experience neurological symptoms, such as seizures, paralysis, and cognitive impairment.
* Increased risk of liver damage: PCT is associated with an increased risk of developing liver cancer and cirrhosis.
* Increased risk of cancer: Individuals with PCT have an increased risk of developing other types of cancer, such as lung, throat, and bladder cancer.

PCT is diagnosed based on a combination of clinical symptoms, laboratory tests, and genetic analysis. Treatment options for PCT include:

* Avoiding triggers such as sun exposure and certain medications
* Using protective clothing and sunscreen
* Medications to manage symptoms such as pain and itching
* Liver transplantation in advanced cases of liver damage

There is no cure for PCT, but early diagnosis and management can help reduce the severity of symptoms and improve quality of life.

Hereditary coproporphyriaHereditary coproporphyria
... (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. HCP is caused by ... 121300 COPROPORPHYRIA, HEREDITARY; HCP". Johns Hopkins University. Retrieved 2012-05-27. Tortorelli, Silvia; Kloke, Karen M.; ... "Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic ... Porphyria at NLM Genetics Home Reference Coproporphyria at NIH's Office of Rare Diseases MedlinePlus Encyclopedia: Porphyria ( ...
https://en.wikipedia.org/wiki/Hereditary_coproporphyria
Lead-crime hypothesisLead-crime hypothesis
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved February 28, 2020. the symptoms in lead poisoning closely ...
https://en.wikipedia.org/wiki/Lead–crime_hypothesis
Coproporphyrinogen III oxidaseCoproporphyrinogen III oxidase
Hereditary coproporphyria (HCP) and harderoporphyria are two phenotypically separate disorders that concern partial deficiency ... The medical condition associated with this enzyme defect is called hereditary coproporphyria. CPOX, the sixth enzyme of the ... Martasek P, Nordmann Y, Grandchamp B (March 1994). "Homozygous hereditary coproporphyria caused by an arginine to tryptophane ... Martasek P, Nordmann Y, Grandchamp B (March 1994). "Homozygous hereditary coproporphyria caused by an arginine to tryptophane ...
https://en.wikipedia.org/wiki/Coproporphyrinogen_III_oxidase
The Home DepotThe Home Depot
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved February 28, 2020. the symptoms in lead poisoning closely ...
https://en.wikipedia.org/wiki/The_Home_Depot
Aminolevulinic acid dehydratase deficiency porphyriaAminolevulinic acid dehydratase deficiency porphyria
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning closely ...
https://en.wikipedia.org/wiki/Aminolevulinic_acid_dehydratase_deficiency_porphyria
PorphyriaPorphyria
Hereditary coproporphyria, which is characterized by a deficiency in coproporphyrinogen oxidase, coded for by the CPOX gene, ... The exception to this may be latent post-puberty genetic carriers of hereditary coproporphyria.[citation needed] As most ... hereditary coproporphyria, variegate porphyria) have been noted in DNA tests to be latent for classic symptoms and may require ... and hereditary coproporphyria (HCP). These diseases primarily affect the nervous system, resulting in episodic crises known as ...
https://en.wikipedia.org/wiki/Porphyria
Lead poisoningLead poisoning
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning closely ...
https://en.wikipedia.org/wiki/Lead_poisoning
Polymorphous light eruptionPolymorphous light eruption
Variegate porphyria and hereditary coproporphyria can also exhibit symptoms of light-induced blisters. Sunlight has been ... "Hereditary Coproporphyria (HCP)". American Porphyria Foundation. 18 February 2009. Retrieved 4 June 2018. Rapini RP, Bolognia ... Actinic Prurigo is a hereditary form of PLE occurring typically in Native Americans. Management entails regulating triggers ...
https://en.wikipedia.org/wiki/Polymorphous_light_eruption
HarderoporphyriaHarderoporphyria
121300 COPROPORPHYRIA, HEREDITARY; HCP". Johns Hopkins University. Retrieved 2012-05-27. Gorchein, A.; Danton, M.; Lim, C. K. ( ... Mutations in CPOX usually cause hereditary coproporphyria, an acute hepatic porphyria, however the K404E mutation in a ... A variant hereditary coproporphyria". Journal of Clinical Investigation. 72 (3): 1139-1149. doi:10.1172/JCI111039. PMC 1129282 ... "Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic ...
https://en.wikipedia.org/wiki/Harderoporphyria
Acute intermittent porphyriaAcute intermittent porphyria
Elevated urine porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A ...
https://en.wikipedia.org/wiki/Acute_intermittent_porphyria
Hepatoerythropoietic porphyriaHepatoerythropoietic porphyria
Hereditary coproporphyria List of cutaneous conditions List of dental abnormalities associated with cutaneous conditions " ...
https://en.wikipedia.org/wiki/Hepatoerythropoietic_porphyria
HivesHives
Dominantly inherited cutaneous and neurocutaneous porphyrias (porphyria cutanea tarda, hereditary coproporphyria, variegate ... The rare form is hereditary and becomes evident as hives all over the body 9 to 18 hours after cold exposure. The common form ...
https://en.wikipedia.org/wiki/Hives
Alcohol and cancerAlcohol and cancer
... variegate porphyria and hereditary coproporphyria. Porphyria cutanea tarda is also associated with HCC, but with typical risk ...
https://en.wikipedia.org/wiki/Alcohol_and_cancer
Hepatocellular carcinomaHepatocellular carcinoma
... hereditary coproporphyria, variegate porphyria) and tyrosinemia type I are risk factors for hepatocellular carcinoma. The ...
https://en.wikipedia.org/wiki/Hepatocellular_carcinoma
Hepatic porphyriaHepatic porphyria
Acute intermittent porphyria Porphyria cutanea tarda and Hepatoerythropoietic porphyria Hereditary coproporphyria Variegate ...
https://en.wikipedia.org/wiki/Hepatic_porphyria
HemeHeme
... hereditary coproporphyria, variegate porphyria, erythropoietic protoporphyria.[citation needed] Impossible Foods, producers of ... deficiency causes hereditary coproporphyria) FECH: ferrochelatase (deficiency causes erythropoietic protoporphyria) HMBS: ...
https://en.wikipedia.org/wiki/Heme
Psychomotor agitationPsychomotor agitation
Hereditary coproporphyria Variegate porphyria Side effects of drugs like cocaine or methylphenidate Side effects of ...
https://en.wikipedia.org/wiki/Psychomotor_agitation
HCPHCP
... a venture capital firm Healthcare professional Hereditary coproporphyria Himalayan Cataract Project Human Connectome Project ...
https://en.wikipedia.org/wiki/HCP
Chromosome 3Chromosome 3
... progressive/nonprogressive Hereditary coproporphyria Hereditary nonpolyposis colorectal cancer HIV infection, susceptibility/ ... hereditary motor and sensory, Okinawa type Night blindness Nonsyndromic deafness Ovarian cancer Porphyria Propionic acidemia ... coproporphyria, harderoporphyria) DPPA2: Developmental pluripotency associated 2 DTX3L: encoding protein Deltex e3 ubiquitin ... type 2 Charcot-Marie-Tooth disease Chromosome 3q duplication syndrome Coproporphyria A location on human chromosome 3 is ...
https://en.wikipedia.org/wiki/Chromosome_3
List of MeSH codes (C06)List of MeSH codes (C06)
... coproporphyria, hereditary MeSH C06.552.830.150 - porphyria, acute intermittent MeSH C06.552.830.250 - porphyria cutanea tarda ... hereditary nonpolyposis MeSH C06.301.371.411.307.790 - rectal neoplasms MeSH C06.301.371.411.307.790.040 - anus neoplasms MeSH ... hereditary nonpolyposis MeSH C06.405.249.411.307.790 - rectal neoplasms MeSH C06.405.249.411.307.790.040 - anus neoplasms MeSH ... hereditary nonpolyposis MeSH C06.405.469.491.307.790 - rectal neoplasms MeSH C06.405.469.491.307.790.040 - anus neoplasms MeSH ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C06)
DysuriaDysuria
Diverticulitis Hypotension Mass in the abdomen Reactive arthritis Acute intermittent porphyria Hereditary coproporphyria ...
https://en.wikipedia.org/wiki/Dysuria
Syndrome of inappropriate antidiuretic hormone secretionSyndrome of inappropriate antidiuretic hormone secretion
... hereditary coproporphyria, variegate porphyria) Multiple system atrophy Multiple sclerosis Cancers Carcinomas Lung cancers ( ... Oxytocin Vincristine Morphine Amitriptyline Transient causes Endurance exercise General anesthesia Hereditary causes ...
https://en.wikipedia.org/wiki/Syndrome_of_inappropriate_antidiuretic_hormone_secretion
List of MeSH codes (C18)List of MeSH codes (C18)
... coproporphyria, hereditary MeSH C18.452.648.735.150 - porphyria, acute intermittent MeSH C18.452.648.735.250 - porphyria ... coproporphyria, hereditary MeSH C18.452.872.617.400.150 - porphyria, acute intermittent MeSH C18.452.872.617.400.250 - ... hereditary nonpolyposis MeSH C18.452.284.280 - fanconi anemia MeSH C18.452.284.520 - Li-Fraumeni syndrome MeSH C18.452.284.600 ... hereditary MeSH C18.452.648.437.281 - Crigler-Najjar syndrome MeSH C18.452.648.437.528 - gilbert disease MeSH C18.452.648.499 ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C18)
List of MeSH codes (C16)List of MeSH codes (C16)
... coproporphyria, hereditary MeSH C16.320.565.735.150 - porphyria, acute intermittent MeSH C16.320.565.735.250 - porphyria ... coproporphyria, hereditary MeSH C16.320.850.742.150 - porphyria, acute intermittent MeSH C16.320.850.742.250 - porphyria ... hereditary MeSH C16.320.290.564.400 - optic atrophy, hereditary, leber MeSH C16.320.290.564.500 - optic atrophy, autosomal ... hereditary central nervous system demyelinating diseases MeSH C16.320.400.400 - hereditary motor and sensory neuropathies MeSH ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C16)
List of diseases (H)List of diseases (H)
Hereditary coproporphyria Hereditary deafness Hereditary elliptocytosis Hereditary fibrinogen Aα-Chain amyloidosis Hereditary ... Hereditary m Hereditary amyloidosis Hereditary angioedema Hereditary ataxia Hereditary carnitine deficiency myopathy Hereditary ... Hereditary t Hereditary nodular heterotopia Hereditary non-spherocytic hemolytic anemia Hereditary pancreatitis Hereditary ... Hereditary hearing disorder Hereditary hearing loss Hereditary hemochromatosis Hereditary hemorrhagic telangiectasia Hereditary ...
https://en.wikipedia.org/wiki/List_of_diseases_(H)
List of diseases (P)List of diseases (P)
... hereditary coproporphyria Portal hypertension due to infrahepatic block Portal hypertension Portal thrombosis Portal vein ... hereditary Pancreatoblastoma Panhypopituitarism Panic disorder Panmyelophthisis aplastic anemia Panniculitis Panophobia ... POEMS syndrome Poedimus kyleopecia mental retardation Poikiloderma congenital with bullae Weary type Poikiloderma hereditary ...
https://en.wikipedia.org/wiki/List_of_diseases_(P)
List of MeSH codes (C17)List of MeSH codes (C17)
... coproporphyria, hereditary MeSH C17.800.827.742.150 - porphyria, acute intermittent MeSH C17.800.827.742.250 - porphyria ... coproporphyria, hereditary MeSH C17.800.849.617.400.150 - porphyria, acute intermittent MeSH C17.800.849.617.400.250 - ...
https://en.wikipedia.org/wiki/List_of_MeSH_codes_(C17)
List of OMIM disorder codesList of OMIM disorder codes
... hereditary, type III; 610618; F12 Angioedema, hereditary, types I and II; 106100; C1NH Angiopathy, hereditary, with nephropathy ... MMP1 Coproporphyria; 121300; CPOX Cornea plana congenita, recessive; 217300; KERA Corneal dystrophy polymorphous posterior, 2; ... ENG Hereditary hemorrhagic telangiectasia-2; 600376; ACVRL1 Hereditary motor and sensory neuropathy VI; 601152; MFN2 Hereditary ... distal hereditary motor, type IIB; 608634; HSPB1 Neuropathy, distal hereditary motor, type V; 600794; BSCL2 Neuropathy, distal ...
https://en.wikipedia.org/wiki/List_of_OMIM_disorder_codes
List of skin conditionsList of skin conditions
Hemodialysis-associated amyloidosis Hepatoerythropoietic porphyria Hereditary coproporphyria Hereditary gelsolin amyloidosis ... hereditary painful callosities, hereditary painful callosity syndrome, keratosis follicularis, keratosis palmoplantaris ... Centola M, Aksentijevich I, Kastner DL (1998). "The hereditary periodic fever syndromes: molecular analysis of a new family of ... Fietta P (2004). "Autoinflammatory diseases: the hereditary periodic fever syndromes". Acta Biomed. 75 (2): 92-9. PMID 15481697 ...
https://en.wikipedia.org/wiki/List_of_skin_conditions
Hereditary Coproporphyria - PubMedHereditary Coproporphyria - PubMed
Clinical characteristics: Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are ...
https://pubmed.ncbi.nlm.nih.gov/23236641/
Hereditary Coproporphyria - GeneReviews® - NCBI BookshelfHereditary Coproporphyria - GeneReviews® - NCBI Bookshelf
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in ... Neonatal-onset hereditary coproporphyria: a new variant of hereditary coproporphyria. JIMD Rep. 2017;37:99-106. [PMC free ... Coproporphyria in individuals heterozygous for a CPOX pathogenic variant is referred to as hereditary coproporphyria. ... Structural basis of hereditary coproporphyria. Proc Natl Acad Sci U S A. 2005;102:14232-7. [PMC free article: PMC1224704] [ ...
https://www.ncbi.nlm.nih.gov/books/n/gene/hcp/
Cutaneous Porphyria: Practice Essentials, Pathophysiology, EpidemiologyCutaneous Porphyria: Practice Essentials, Pathophysiology, Epidemiology
Martasek P. Hereditary coproporphyria. Semin Liver Dis. 1998. 18(1):25-32. [QxMD MEDLINE Link]. ... Nordmann Y, Grandchamp B, de Verneuil H, Phung L, Cartigny B, Fontaine G. Harderoporphyria: a variant hereditary coproporphyria ... namely hereditary coproporphyria (HCP) and variegate porphyria (VP). [5] ... Succinylacetone, a substrate analogue of ALA that is found in the blood and urine of patients with hereditary tyrosinemia, is ...
https://emedicine.medscape.com/article/957765-overview
Porphyria: MedlinePlus Medical EncyclopediaPorphyria: MedlinePlus Medical Encyclopedia
Porphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; ...
http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm
Porphyria Overview: Practice Essentials, Background, PathophysiologyPorphyria Overview: Practice Essentials, Background, Pathophysiology
Structural basis of hereditary coproporphyria. Proc Natl Acad Sci U S A. 2005 Oct 4. 102(40):14232-7. [QxMD MEDLINE Link]. [ ... Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest. 1983 Sep. 72(3):1139-49. [QxMD MEDLINE Link]. [Full Text] ... Hereditary coproporphyria results in most cases from half-normal activity (50%) of coproporphyrin oxidase. [17] The disease is ... Variegate porphyria and, much less commonly, hereditary coproporphyria can also cause chronic, blistering lesions on sun- ...
https://www.medscape.com/answers/1389981-186089/what-is-the-prevalence-of-porphyria
Porphyria: MedlinePlus Medical EncyclopediaPorphyria: MedlinePlus Medical Encyclopedia
Porphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; ...
https://medlineplus.gov/ency/article/001208.htm
Porphyria - NIDDKPorphyria - NIDDK
hereditary coproporphyria. nervous system and skin. liver. delta-aminolevulinic acid (ALA) dehydratase deficiency porphyria. ... skin blisters when skin is exposed to sunlight, for people with variegate porphyria or hereditary coproporphyria ...
https://www.niddk.nih.gov/health-information/liver-disease/porphyria
Part II: Methods and Approaches 1: Assessing Disease Associations and Interactions Chapter 9 | HuGE | CDCPart II: Methods and Approaches 1: Assessing Disease Associations and Interactions Chapter 9 | HuGE | CDC
Systematic analysis of coproporphyrinogen oxidase gene defects in hereditary coproporphyria and mutation update. Hum Mutat 1999 ... Molecular abnormalities of coproporphyrinogen oxidase in patients with hereditary coproporphyria. J Bioenerg Biomembr 1995;27: ... Hereditary differences in the expression of the human glutathione transferase active on trans-stilbene oxide are due to a gene ... Wiebel FA, Dommermuth A, Thier R. The hereditary transmission of the glutathione transferase hGSTT1-1 conjugator phenotype in a ...
https://www.cdc.gov/genomics/resources/books/huge/chap09.htm
Biomarkers SearchBiomarkers Search
5. [Hereditary coproporphyria. A familial study].. Rocchi E; Pietrangelo A; Gibertini P; Cassanelli M; Trenti T; Borghi A; ... Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia].. Martásek P; Kordac V; ...
https://pubmedhh.nlm.nih.gov/biomarkers/search.php?id=3015181&mod=related&page=1&outid=&proj=
Porphyria Overview: Practice Essentials, Background, PathophysiologyPorphyria Overview: Practice Essentials, Background, Pathophysiology
Structural basis of hereditary coproporphyria. Proc Natl Acad Sci U S A. 2005 Oct 4. 102(40):14232-7. [QxMD MEDLINE Link]. [ ... Harderoporphyria: a variant hereditary coproporphyria. J Clin Invest. 1983 Sep. 72(3):1139-49. [QxMD MEDLINE Link]. [Full Text] ... Hereditary coproporphyria results in most cases from half-normal activity (50%) of coproporphyrin oxidase. [17] The disease is ... Variegate porphyria and, much less commonly, hereditary coproporphyria can also cause chronic, blistering lesions on sun- ...
https://reference.medscape.com/article/1389981-overview
Abstracts - FIP - International Pharmaceutical FederationAbstracts - FIP - International Pharmaceutical Federation
Givosiran and hereditary coproporphyria: case report (HPS-065). Glycemic control and treatment with isglt2 drugs in type 2 ...
https://www.fip.org/?page=abstracts&action=favoriteaddlist&item=12096
MeSH BrowserMeSH Browser
Coproporphyria, Hereditary Preferred Term Term UI T051033. Date10/01/1991. LexicalTag NON. ThesaurusID ... Coproporphyria, Hereditary Preferred Concept UI. M0025971. Scope Note. An autosomal dominant porphyria that is due to a ... Hereditary Coproporphyria Term UI T551547. Date09/24/2003. LexicalTag NON. ThesaurusID ... Coproporphyria, Hereditary. Tree Number(s). C06.552.830.074. C16.320.850.742.074. C17.800.827.742.074. C18.452.811.400.074. ...
https://meshb.nlm.nih.gov/record/ui?ui=D046349
Adventures in Autism: Spinning the Hannah Poling Case
For example one mitochondrial disease, hereditary coproporphyria, comes from a partial deficiency of a mitochondrial enzyme ( ...
https://adventuresinautism.blogspot.com/2008/03/spinning-hannah-poling-case.html
DailyMed - GIVLAARI- givosiran sodium injection, solutionDailyMed - GIVLAARI- givosiran sodium injection, solution
1 patient with hereditary coproporphyria [HCP], and 2 patients with no identified mutation). Eligible patients were randomized ...
https://dailymed.nlm.nih.gov/dailymed/drugInfo.cfm?setid=167e663c-11e1-497b-a3fc-951d65d58eaa&audience=consumer
Porphyria - About the Disease - Genetic and Rare Diseases Information CenterPorphyria - About the Disease - Genetic and Rare Diseases Information Center
... hereditary coproPorphyria, Porphyria cutanea tarda, and variegate Porphyria. The most common type of Porphyria is Porphyria ...
https://rarediseases.info.nih.gov/diseases/10353/porphyria
MH DELETED MN ADDED MNMH DELETED MN ADDED MN
Coproporphyria, Hereditary C16.320.565.708.400.74 C17.800.849.617.400.74 C18.452.648.708.400.74 C18.452.880.617.400.74 ... Hereditary Sensory and Autonomic Neuropathies C10.114.750.137 C10.668.829.800.175 C10.314.750.600 C10.668.829.800.625 C10.668. ...
https://decs.bvs.br/P/mnchg2016.txt
DeCSDeCS
Coproporphyria, Hereditary - Preferred Concept UI. M0025971. Scope note. An autosomal dominant porphyria that is due to a ... Coproporphyria, Hereditary Entry term(s). Coproporphyrinogen Oxidase Deficiency Deficiency, Coproporphyrinogen Oxidase ... Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Congenital, Hereditary, and Neonatal Diseases and ...
https://decs.bvsalud.org/en/ths/resource/?id=38624
MeSH BrowserMeSH Browser
Coproporphyria, Hereditary Preferred Term Term UI T051033. Date10/01/1991. LexicalTag NON. ThesaurusID ... Coproporphyria, Hereditary Preferred Concept UI. M0025971. Scope Note. An autosomal dominant porphyria that is due to a ... Hereditary Coproporphyria Term UI T551547. Date09/24/2003. LexicalTag NON. ThesaurusID ... Coproporphyria, Hereditary. Tree Number(s). C06.552.830.074. C16.320.850.742.074. C17.800.827.742.074. C18.452.811.400.074. ...
https://meshb-prev.nlm.nih.gov/record/ui?ui=D046349
Azithromycin 500 mg, 250 mg, 100 mg - Purchase cheap Azithromycin online no RX
Uneventful propofol anesthesia in a patient with coexisting hereditary coproporphyria 31. Revised nomenclature for allergy for ...
http://dtekerala.gov.in/buy/Azithromycin/
Lexical ToolsLexical Tools
... hereditary coproporphyria H.C.,high cholesterol H.C.,hip circumference H.C.,hippocampus H.C.,histamine challenge H.C., ... hereditary haemolytic syndrome HHS,hereditary hemolytic syndrome HHS,hexuronyl hexosaminoglycan sulfate HHS,hexuronyl ... hereditary elliptocytosis HE,heredity and environment HE,high explosive HE,high exposure HE,higher education HE,hollow enzyme ... hereditary elliptocytosis He,heredity and environment He,high explosive He,high exposure He,higher education He,hollow enzyme ...
https://lhncbc.nlm.nih.gov/LSG/Projects/lvg/current/docs/designDoc/LifeCycle/test/fa.html
Pesquisa | Prevenção e Controle de CâncerPesquisa | Prevenção e Controle de Câncer
Hereditary coproporphyria (Hepatic coproporphyria), Erythropoietic coproporphyria]. Kiso, S; Kawata, S; Kashihara, T; Tamura, S ... Hereditary coproporphyria (Hepatic coproporphyria: HCP); HCP is the rarest and least recognized among hepatic porphyrias and is ... hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT ... Erythropoietic coproporphyria (ECP); Heilmeyer and Clotten have described that elevated PROTO (protoporphyrin) and COPRO were ...
https://pesquisa.bvsalud.org/controlecancer/?lang=pt&q=mh:Porfirias+Hep%C3%A1ticas/etiologia
Porphyria Symptoms, Casues, Diagnosis, & More at blog.cult.fitPorphyria Symptoms, Casues, Diagnosis, & More at blog.cult.fit
Hereditary coproporphyria. *Variegate porphyria. *Congenital erythropoietic porphyria. *Porphyria cutanea tarda. * ...
https://blog.cult.fit/articles/porphyria
Pesquisa | BVS BoliviaPesquisa | BVS Bolivia
One of the two hereditary coproporphyria cases was missed. The algorithms for acute and cutaneous porphyria showed high ... hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. ... Acute porphyrias are caused by rare hereditary disorders of hepatic heme biosynthesis. Episodes of accumulating neurotoxic ...
https://pesquisa.bvsalud.org/bolivia/?lang=pt&q=mh:Porfiria+Aguda+Intermitente
Specific PHGKB|Rare Diseases PHGKB|PHGKB
Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the ...
https://phgkb.cdc.gov/PHGKB/specificPHGKB.action?topic=Rare&query=Hereditary+coproporphyria
Pcsk1 Mouse Gene Details | proprotein convertase subtilisin/kexin type 1 | International Mouse Phenotyping ConsortiumPcsk1 Mouse Gene Details | proprotein convertase subtilisin/kexin type 1 | International Mouse Phenotyping Consortium
Coproporphyria, Hereditary. Vomiting, Diarrhea, Jaundice, Abdominal pain, Hypertension, Tachycardia, Constipation, Hepatomega ...
https://www.mousephenotype.org/data/genes/MGI:97511
Chronic/Cutaneous Porphyria Panel Test - PreventionGeneticsChronic/Cutaneous Porphyria Panel Test - PreventionGenetics
... hereditary coproporphyria (HCP) variegate porphyria (VP), erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP ... In two studies with individuals having a clinical and biochemical diagnosis of hereditary coproporphyria, pathogenic variants ... of hereditary coproporphyria cases (CPOX gene), ,2% of congenital erythropoietic porphyria cases (UROS gene), and ,5% of ... hereditary coproporphyria (CPOX), variegate porphyria (PPOX), porphyria cutanea tarda/hepatoerythropoietic porphyria (UROD), ...
https://www.preventiongenetics.com/testInfo?val=Chronic%2FCutaneous-Porphyria-Panel
What is Coproporphyrin I? High and low values | Lab results explained - HealthMatters.io - Lab results explainedWhat is Coproporphyrin I? High and low values | Lab results explained - HealthMatters.io - Lab results explained
Porphyrins build up among patients with hereditary enzyme disorders known as porphyrias.… ... Coproporphyrin and uroporphyrin excretion in urine is markedly increased during a cute attacks of hereditary coproporphyria. ... Porphyrins build up among patients with hereditary enzyme disorders known as porphyrias. Porphyrias affect the heme ...
https://blog.healthmatters.io/2019/05/13/what-is-coproporphyrin-i-high-and-low-values-lab-results-explained/
Porphyrin TestsPorphyrin Tests
Hereditary coproporphyria. Increased. Increased COPRO. Increased COPRO. Normal. Porphyria curtanea tarda. Normal. Increased URO ... Hereditary coproporphyria (HCP), which may present with neurological symptoms, photosensitivity, or both ...
https://labtestsonline.org.br/tests/porphyrin-tests
Porphyrien - DEXIMED - Deutsche Experteninformation MedizinPorphyrien - DEXIMED - Deutsche Experteninformation Medizin
Hereditary coproporphyria. Paris, Orphanet 2009 www.orpha.net *Orphanet. Porphyria due to ALA dehydratase deficiency. Paris, ...
https://deximed.de/home/klinische-themen/blut/krankheiten/porphyrien/porphyrien
About a Rare Genetic Disease | Porphyria.caAbout a Rare Genetic Disease | Porphyria.ca
Hereditary coproporphyria (HCP). *ALAD-deficiency porphyria (ADP). Extremely rare. The symptoms of AHP often resemble those of ...
https://www.porphyria.ca/about-ahp
VariegateHepaticAcuteInvolved in hemeDefects
Variegate7
  • Two porphyrias overlap these categories and can cause both neurovisceral and cutaneous symptoms, namely hereditary coproporphyria (HCP) and variegate porphyria (VP). (medscape.com)
  • Acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and the familial form of porphyria cutanea tarda (PCT) follow an autosomal dominant inheritance pattern with low penetration. (medscape.com)
  • This review focuses on hepatic porphyrias, which include acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), aminolevulinic acid dehydratase deficiency porphyria (ADP), and porphyria cutanea tarda (PCT). (bvsalud.org)
  • Chronic porphyrias include congenital erythropoietic porphyria (CEP), porphyria cutanea tarda (PCT), hepatoerythropoietic porphyria (HEP), hereditary coproporphyria (HCP) variegate porphyria (VP), erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP). (preventiongenetics.com)
  • There are currently six different forms of chronic/cutaneous porphyria caused by specific pathogenic variants in genes involved in heme biosynthesis: hereditary coproporphyria ( CPOX ), variegate porphyria ( PPOX ), porphyria cutanea tarda/hepatoerythropoietic porphyria ( UROD ), congenital erythropoietic protoporphyria ( UROS ), erythropoietic protoporphyria ( FECH ), and X-linked protoporphyria ( ALAS2 ). (preventiongenetics.com)
  • Hereditary coproporphyria and variegate porphyria only. (porphyria.ca)
  • for vesiculobullous formation (suggesting porphyria cutanea tarda, hereditary coproporphyria, or variegate porphyria) a screening test for urinary porphyrins should be done. (qxmd.com)
Hepatic1
  • Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. (nih.gov)
Acute1
  • 13. [Acute liver porphyria--hereditary coproporphyria diagnosed for the first time in Czechoslovakia]. (nih.gov)
Involved in heme1
  • Porphyria is the common term for a group of syndromes, largely hereditary, that result from defects in porphyrins (the enzymes involved in heme synthesis). (medscape.com)
Defects1
  • Defects in this gene are a cause of hereditary coproporphyria (HCP). (nih.gov)

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