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.
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.
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.
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.
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.
Colorless reduced precursors of porphyrins in which the pyrrole rings are linked by methylene (-CH2-) bridges.
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.
Realm in central Europe consisting of a confederation of German and Italian territories under the suzerainty of an emperor and existing from the 9th or 10th century to 1806.
'Cooking and eating utensils' are tools or instruments made of various materials, such as metals, ceramics, glass, or silicone, that are specifically designed and used for preparing, serving, and consuming food during meal preparations and dining occasions.
Substances capable of inhibiting, retarding or arresting the process of fermentation, acidification or other deterioration of foods.
A historical and cultural entity dispersed across a wide geographical area under the political domination and influence of ancient Rome, bringing to the conquered people the Roman civilization and culture from 753 B.C. to the beginning of the imperial rule under Augustus in 27 B.C. The early city built on seven hills grew to conquer Sicily, Sardinia, Carthage, Gaul, Spain, Britain, Greece, Asia Minor, etc., and extended ultimately from Mesopotamia to the Atlantic. Roman medicine was almost entirely in Greek hands, but Rome, with its superior water system, remains a model of sanitation and hygiene. (From A. Castiglioni, A History of Medicine, 2d ed pp196-99; from F. H. Garrison, An Introduction to the History of Medicine, 4th ed, pp107-120)
Works containing information articles on subjects in every field of knowledge, usually arranged in alphabetical order, or a similar work limited to a special field or subject. (From The ALA Glossary of Library and Information Science, 1983)
The branch of pharmacology that deals directly with the effectiveness and safety of drugs in humans.
Mold and yeast inhibitor. Used as a fungistatic agent for foods, especially cheeses.
The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder.
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Solid dosage forms, of varying weight, size, and shape, which may be molded or compressed, and which contain a medicinal substance in pure or diluted form. (Dorland, 28th ed)
Recording of electric currents developed in the brain by means of electrodes applied to the scalp, to the surface of the brain, or placed within the substance of the brain.
A childhood seizure disorder characterized by rhythmic electrical brain discharges of generalized onset. Clinical features include a sudden cessation of ongoing activity usually without loss of postural tone. Rhythmic blinking of the eyelids or lip smacking frequently accompanies the SEIZURES. The usual duration is 5-10 seconds, and multiple episodes may occur daily. Juvenile absence epilepsy is characterized by the juvenile onset of absence seizures and an increased incidence of myoclonus and tonic-clonic seizures. (Menkes, Textbook of Child Neurology, 5th ed, p736)
Printed publications usually having a format with no binding and no cover and having fewer than some set number of pages. They are often devoted to a single subject.
A medical specialty concerned with the study of the structures, functions, and diseases of the nervous system.

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)

Hereditary coproporphyria (HCP) is a rare inherited disorder of the heme biosynthesis pathway, which is the process by which your body produces heme. Heme is a crucial component of various proteins, including hemoglobin, which carries oxygen in red blood cells.

In HCP, there is a deficiency of an enzyme called coproporphyrinogen oxidase. This enzyme is essential for converting coproporphyrinogen III to protoporphyrin IX in the heme biosynthesis pathway. As a result, coproporphyrinogen III accumulates and gets converted to coproporphyrin, which is excreted in urine and stool in abnormally high amounts.

The symptoms of HCP can be diverse and may include both neurological and gastrointestinal manifestations. Neurological symptoms might include abdominal pain, muscle weakness, numbness, tingling, seizures, and psychiatric disturbances. Gastrointestinal symptoms could encompass nausea, vomiting, constipation, or diarrhea. These symptoms are typically triggered by certain factors such as infections, drugs, hormonal changes, or alcohol consumption.

HCP is usually inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing gene from a parent with the disorder. However, some cases may result from de novo mutations, which means the mutation occurs spontaneously without a family history of the condition.

Diagnosis of HCP is usually made through measuring porphyrin levels and their precursors in urine, stool, and blood during an acute attack or between attacks. Genetic testing can confirm the diagnosis by identifying mutations in the CPOX gene, which encodes coproporphyrinogen oxidase.

Treatment for HCP typically involves avoiding triggers, providing supportive care during acute attacks, and using medications to manage symptoms. In some cases, heme arginate or hemine may be given to help decrease porphyrin precursor production. Preventive measures such as avoidance of potential triggers, adequate hydration, and a balanced diet are essential in managing HCP.

Coproporphyrins are porphyrin molecules that contain four carboxylic acid groups (four propionic side chains and two acetic side chains). They are intermediates in the biosynthesis of heme, which is a component of hemoglobin and other hemoproteins. Coproporphyrins can be further metabolized to form protoporphyrins, which are converted into heme by the enzyme ferrochelatase.

Coproporphyrins can be excreted in urine and feces, and their levels can be measured in clinical testing. Elevated coproporphyrin levels in urine or feces may indicate the presence of certain medical conditions, such as lead poisoning, porphyrias, or liver dysfunction.

There are two types of coproporphyrins, coproporphyrin I and coproporphyrin III, which differ in the arrangement of their side chains. Coproporphyrin III is the form that is normally produced in the body, while coproporphyrin I is a byproduct of abnormal porphyrin metabolism.

Coproporphyrinogen Oxidase is a mitochondrial enzyme that plays a crucial role in the biosynthesis of heme, which is an essential component of hemoglobin and other hemoproteins. This enzyme catalyzes the oxidative decarboxylation of coproporphyrinogen III to protoporphyrinogen IX, a key step in the heme biosynthetic pathway.

Deficiency or dysfunction of Coproporphyrinogen Oxidase can lead to a rare genetic disorder known as Hereditary Coproporphyria (HCP), which is characterized by the accumulation of coproporphyrinogen III and its derivative, coproporphyrin, in various tissues and body fluids. This accumulation can result in a range of symptoms, including abdominal pain, neurological disturbances, and skin manifestations.

Hepatic porphyrias are a group of rare genetic disorders that affect the production of heme in the liver. Heme is a crucial component of hemoglobin, the protein in red blood cells that carries oxygen throughout the body. In hepatic porphyrias, there is a buildup of porphyrins or porphyrin precursors, which are toxic and can cause a variety of symptoms.

The four types of hepatic porphyrias are:

1. Acute Intermittent Porphyria (AIP): This is the most common type of hepatic porphyria. It is characterized by attacks of abdominal pain, nausea, vomiting, constipation, and neurological symptoms such as muscle weakness, seizures, and mental changes.
2. Variegate Porphyria (VP): This type of porphyria is more common in South Africa but can occur worldwide. It is characterized by skin symptoms such as blistering and scarring after exposure to sunlight, as well as acute attacks similar to those seen in AIP.
3. Hereditary Coproporphyria (HCP): This type of porphyria is similar to VP, but the symptoms are usually less severe. It can cause both skin symptoms and acute attacks.
4. ALA Dehydratase Deficiency Porphyria (ADDP): This is the rarest type of hepatic porphyria. It is characterized by severe neurological symptoms and is often diagnosed in infancy or early childhood.

The diagnosis of hepatic porphyrias typically involves measuring the levels of porphyrins and their precursors in the urine, blood, or stool during an attack or between attacks. Treatment may include avoiding trigger factors such as certain medications, alcohol, and smoking, as well as providing supportive care during acute attacks. In some cases, medication to reduce porphyrin production or prevent attacks may be necessary.

Porphyrias are a group of rare genetic disorders that affect the production of heme, a component in hemoglobin that carries oxygen in the blood. The diseases are caused by mutations in the genes involved in the production of heme, leading to the buildup of porphyrins or their precursors in the body. These substances can be toxic and can cause various symptoms depending on the specific type of porphyria. Symptoms may include abdominal pain, neurological problems, and skin issues. Porphyrias are typically divided into two categories: acute porphyrias, which affect the nervous system, and cutaneous porphyrias, which primarily affect the skin.

Porphyrinogens are organic compounds that are the precursors to porphyrins, which are ring-shaped molecules found in many important biological molecules such as hemoglobin and cytochromes. Porphyrinogens are themselves derived from the condensation of four pyrrole molecules, and they undergo further reactions to form porphyrins.

In particular, porphyrinogens are intermediates in the biosynthesis of heme, which is a complex organic ring-shaped molecule that contains iron and plays a critical role in oxygen transport and storage in the body. Abnormalities in heme biosynthesis can lead to various medical conditions known as porphyrias, which are characterized by the accumulation of porphyrinogens and other intermediates in this pathway. These conditions can cause a range of symptoms, including neurological problems, skin sensitivity to light, and abdominal pain.

Porphyrins are complex organic compounds that contain four pyrrole rings joined together by methine bridges (=CH-). They play a crucial role in the biochemistry of many organisms, as they form the core structure of various heme proteins and other metalloproteins. Some examples of these proteins include hemoglobin, myoglobin, cytochromes, and catalases, which are involved in essential processes such as oxygen transport, electron transfer, and oxidative metabolism.

In the human body, porphyrins are synthesized through a series of enzymatic reactions known as the heme biosynthesis pathway. Disruptions in this pathway can lead to an accumulation of porphyrins or their precursors, resulting in various medical conditions called porphyrias. These disorders can manifest as neurological symptoms, skin lesions, and gastrointestinal issues, depending on the specific type of porphyria and the site of enzyme deficiency.

It is important to note that while porphyrins are essential for life, their accumulation in excessive amounts or at inappropriate locations can result in pathological conditions. Therefore, understanding the regulation and function of porphyrin metabolism is crucial for diagnosing and managing porphyrias and other related disorders.

I'm sorry for any confusion, but the term "Holy Roman Empire" is not a medical concept or term. It refers to a political entity that existed in Western and Central Europe from 962 to 1806. At its height, it was one of the most powerful states in Europe, encompassing modern-day Germany, Austria, the Czech Republic, Switzerland, and other territories. The Holy Roman Empire was not a nation-state in the modern sense but rather a complex collection of principalities, duchies, free cities, and bishoprics, each with its own ruler and degree of autonomy.

If you have any medical questions or concerns, I would be happy to help answer them!

Cooking and eating utensils are devices or tools used in the preparation, cooking, and serving of food. Here is a brief medical definition for some common types:

1. Cooking utensils: These include various tools and equipment used to prepare and cook food, such as knives, cutting boards, pots, pans, whisks, spatulas, colanders, and measuring cups/spoons. They help to chop, dice, mix, blend, stir, sauté, boil, fry, bake, or grill ingredients.
2. Eating utensils: These are devices used to consume food and include items like forks, spoons, knives, chopsticks, and straws. They aid in bringing food from the plate or bowl to the mouth and cutting or separating food into manageable pieces.

Proper cleaning and maintenance of cooking and eating utensils are essential to prevent cross-contamination of bacteria, viruses, or other microorganisms that can cause foodborne illnesses. Using clean utensils and following safe food handling practices can help minimize the risk of infection and promote overall health.

Food preservatives are substances added to foods to prevent or slow down spoilage caused by microorganisms such as bacteria, yeasts, and molds, or to retard quality deterioration due to oxidation or other chemical reactions. They work by inhibiting the growth of microorganisms, preventing enzymatic reactions that cause spoilage, or scavenging oxygen that can lead to food degradation. Examples of commonly used food preservatives include sodium benzoate, potassium sorbate, sulfites, and nitrites. It is important to note that while food preservatives play a crucial role in maintaining the safety and quality of our food supply, excessive consumption of certain preservatives may have adverse health effects.

I'm sorry for any confusion, but "Roman World" is not a medical term. It may refer to the geographical area, culture, or time period associated with the ancient Roman Empire. If you have any questions about medical terminology or concepts, I would be happy to help answer those!

An encyclopedia is a comprehensive reference work containing articles on various topics, usually arranged in alphabetical order. In the context of medicine, a medical encyclopedia is a collection of articles that provide information about a wide range of medical topics, including diseases and conditions, treatments, tests, procedures, and anatomy and physiology. Medical encyclopedias may be published in print or electronic formats and are often used as a starting point for researching medical topics. They can provide reliable and accurate information on medical subjects, making them useful resources for healthcare professionals, students, and patients alike. Some well-known examples of medical encyclopedias include the Merck Manual and the Stedman's Medical Dictionary.

Clinical pharmacology is a branch of medicine that deals with the study of drugs and their interactions with living organisms. It involves understanding how drugs are absorbed, distributed, metabolized, and excreted by the body, as well as their therapeutic effects, side effects, and toxicity. Clinical pharmacology also encompasses the design and conduct of clinical trials to evaluate the safety and efficacy of new drugs in human subjects. The ultimate goal of clinical pharmacology is to optimize drug therapy for individual patients by considering factors such as age, sex, genetics, lifestyle, and comorbidities. In summary, clinical pharmacology is the application of pharmacological principles to the practice of medicine for the benefit of patients.

Sorbic acid is a chemical compound that is commonly used as a preservative in various food and cosmetic products. Medically, it's not typically used as a treatment for any specific condition. However, its preservative properties help prevent the growth of bacteria, yeast, and mold, which can improve the safety and shelf life of certain medical supplies such as ointments and eye drops.

The chemical structure of sorbic acid is that of a carboxylic acid with two double bonds, making it a unsaturated fatty acid. It's naturally found in some fruits like rowanberries and serviceberries, but most commercial sorbic acid is synthetically produced.

Food-grade sorbic acid is generally recognized as safe (GRAS) by the U.S. Food and Drug Administration (FDA), and it has a wide range of applications in food preservation, including baked goods, cheeses, wines, and fruit juices. In cosmetics, it's often used to prevent microbial growth in products like creams, lotions, and makeup.

It is important to note that some people may have allergic reactions to sorbic acid or its salts (sorbates), so caution should be exercised when introducing new products containing these substances into personal care routines or diets.

Sleep deprivation is a condition that occurs when an individual fails to get sufficient quality sleep or the recommended amount of sleep, typically 7-9 hours for adults. This can lead to various physical and mental health issues. It can be acute, lasting for one night or a few days, or chronic, persisting over a longer period.

The consequences of sleep deprivation include:

1. Fatigue and lack of energy
2. Difficulty concentrating or remembering things
3. Mood changes, such as irritability or depression
4. Weakened immune system
5. Increased appetite and potential weight gain
6. Higher risk of accidents due to decreased reaction time
7. Health problems like high blood pressure, diabetes, and heart disease over time

Sleep deprivation can be caused by various factors, including stress, shift work, sleep disorders like insomnia or sleep apnea, poor sleep hygiene, and certain medications. It's essential to address the underlying causes of sleep deprivation to ensure proper rest and overall well-being.

A seizure is an uncontrolled, abnormal firing of neurons (brain cells) that can cause various symptoms such as convulsions, loss of consciousness, altered awareness, or changes in behavior. Seizures can be caused by a variety of factors including epilepsy, brain injury, infection, toxic substances, or genetic disorders. They can also occur without any identifiable cause, known as idiopathic seizures. Seizures are a medical emergency and require immediate attention.

In the context of medical terminology, tablets refer to pharmaceutical dosage forms that contain various active ingredients. They are often manufactured in a solid, compressed form and can be administered orally. Tablets may come in different shapes, sizes, colors, and flavors, depending on their intended use and the manufacturer's specifications.

Some tablets are designed to disintegrate or dissolve quickly in the mouth, making them easier to swallow, while others are formulated to release their active ingredients slowly over time, allowing for extended drug delivery. These types of tablets are known as sustained-release or controlled-release tablets.

Tablets may contain a single active ingredient or a combination of several ingredients, depending on the intended therapeutic effect. They are typically manufactured using a variety of excipients, such as binders, fillers, and disintegrants, which help to hold the tablet together and ensure that it breaks down properly when ingested.

Overall, tablets are a convenient and widely used dosage form for administering medications, offering patients an easy-to-use and often palatable option for receiving their prescribed treatments.

Electroencephalography (EEG) is a medical procedure that records electrical activity in the brain. It uses small, metal discs called electrodes, which are attached to the scalp with paste or a specialized cap. These electrodes detect tiny electrical charges that result from the activity of brain cells, and the EEG machine then amplifies and records these signals.

EEG is used to diagnose various conditions related to the brain, such as seizures, sleep disorders, head injuries, infections, and degenerative diseases like Alzheimer's or Parkinson's. It can also be used during surgery to monitor brain activity and ensure that surgical procedures do not interfere with vital functions.

EEG is a safe and non-invasive procedure that typically takes about 30 minutes to an hour to complete, although longer recordings may be necessary in some cases. Patients are usually asked to relax and remain still during the test, as movement can affect the quality of the recording.

Absence epilepsy is a type of epilepsy characterized by recurrent brief episodes of "absences," or staring spells, that can last from a few seconds to several minutes. These episodes are often accompanied by subtle body movements such as lip smacking or eyelid flutters. Absence epilepsy is most commonly diagnosed in children and adolescents, and it is more common in girls than boys.

The seizures in absence epilepsy are caused by abnormal electrical activity in the brain, specifically in a part of the brain called the cortex. These abnormal electrical discharges occur in a pattern that involves both sides of the brain simultaneously. This differs from other types of epilepsy, which may involve only one side of the brain or specific areas within a single hemisphere.

Absence seizures are typically brief and do not cause confusion or disorientation after they end. However, if they occur frequently, they can interfere with learning and social development. In some cases, absence epilepsy may be associated with other types of seizures, such as generalized tonic-clonic (grand mal) seizures or myoclonic jerks.

The diagnosis of absence epilepsy is usually made based on the characteristic symptoms and the results of an electroencephalogram (EEG), which can detect the abnormal electrical activity in the brain during a seizure. Treatment typically involves medication to control the seizures, such as ethosuximide or valproic acid. In some cases, a ketogenic diet may also be recommended as an alternative treatment option.

I'm sorry for any confusion, but "pamphlets" is not a medical term. It refers to a small paper booklet or leaflet that can be used to provide information on various topics, including non-medical subjects. If you have any questions about medical terminology or concepts, I'd be happy to help with those!

Neurology is a branch of medicine that deals with the study and treatment of diseases and disorders of the nervous system, which includes the brain, spinal cord, peripheral nerves, muscles, and autonomic nervous system. Neurologists are medical doctors who specialize in this field, diagnosing and treating conditions such as stroke, Alzheimer's disease, epilepsy, Parkinson's disease, multiple sclerosis, and various types of headaches and pain disorders. They use a variety of diagnostic tests, including imaging studies like MRI and CT scans, electrophysiological tests like EEG and EMG, and laboratory tests to evaluate nerve function and identify any underlying conditions or abnormalities. Treatment options may include medication, surgery, rehabilitation, or lifestyle modifications.

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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 ...
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning closely ...
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 ...
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning closely ...
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 ...
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 ...
Elevated urine porphobilinogen confirms diagnosis of AIP, hereditary coproporphyria (HCP), or variegate porphyria (VP). A ...
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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 ...
... variegate porphyria and hereditary coproporphyria. Porphyria cutanea tarda is also associated with HCC, but with typical risk ...
... hereditary coproporphyria, variegate porphyria) and tyrosinemia type I are risk factors for hepatocellular carcinoma. The ...
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... a venture capital firm Healthcare professional Hereditary coproporphyria Himalayan Cataract Project Human Connectome Project ...
... 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 ...
... 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 ...
Diverticulitis Hypotension Mass in the abdomen Reactive arthritis Acute intermittent porphyria Hereditary coproporphyria ...
... 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 ...
... 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 ...
... 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 ...
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 ...
... hereditary coproporphyria Portal hypertension due to intrahepatic 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 ...
... 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 - ...
... 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 ...
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 ...
Hereditary 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 NIHs Office of Rare Diseases MedlinePlus Encyclopedia: Porphyria ( ...
Hereditary coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that ... Neonatal-Onset Hereditary Coproporphyria: A New Variant of Hereditary Coproporphyria. JIMD Rep. 2017. 37:99-106. [QxMD MEDLINE ... encoded search term (Hereditary Coproporphyria) and Hereditary Coproporphyria What to Read Next on Medscape ... Hereditary coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that ...
... Hereditary coproporphyriaClassification & external resources ICD-10 E80.2 (ILDS E80.222) ICD-9 277.1 ... Hereditary coproporphyria (HCP) is a hereditary genetic disease that causes purple urine, photo sensitivity , and attacks of ... Hereditary coproporphyria (HCP) is a form of hepatic porphyria associated with a deficiency of the enzyme coproporphyrinogen ... Hereditary coproporphyria is the result of a point mutation in the coproporphinogen oxidase (CPO) gene (OMIM). Documented ...
Hereditary coproporphyria is one of the porphyrias, a group of diseases that involves defects in heme metabolism and that ... encoded search term (Hereditary Coproporphyria) and Hereditary Coproporphyria What to Read Next on Medscape ... Hereditary Coproporphyria Differential Diagnoses. Updated: Jan 21, 2015 * Author: Thomas G DeLoughery, MD; Chief Editor: ... Ma E, Mar V, Varigos G, Nicoll A, Ross G. Haem arginate as effective maintenance therapy for hereditary coproporphyria. ...
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- ...
Despite this, some Jewish AHP patients-mainly hereditary coproporphyria (HCP) and variegate porphyria (VP) patients-fast for 25 ... A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients is Associated With a Low Risk of ... A 25-Hour Fast Among Quiescent Hereditary Coproporphyria and Variegate Porphyria Patients ...
Diseases & Conditions Hereditary Coproporphyria * 2002205220-overviewDiseases & Conditions. Diseases & Conditions Acute ...
"Hereditary Coproporphyria". GeneReviews. PMID 23236641. Retrieved 28 February 2020. the symptoms in lead poisoning closely ...
... usein a patient with undiagnosed hereditary coproporphyria. Journal of General Internal Medicine, Epub ahead of print.Retrieved ...
Hereditary coproporphyria (HCP). *Congenital erythropoietic porphyria (CEP). More Differentials. *. Log in or subscribe to ... Factors that contribute to susceptibility include alcohol use, smoking, hepatitis C, HIV, iron overload, hereditary ...
Publications] Shigeru Sassa: Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproporphyria Cell Mol ... Publications] Shigeru Sassa: Molecular cletects of the coproporphyrinogen oxidase gene in hereditary coproporphyria. Cell Mol ... HCV the effect of soluble complement receptor type 1 on porphyria models and the mutation analysis of hereditary coproporphyria ... Publications] Sigeru Sassa: Molecular defects of the coproporphyrinogen oxidase gene in hereditary coproperphyria Cell Mol ...
Diseases & Conditions Hereditary Coproporphyria * 2002205220-overviewDiseases & Conditions. Diseases & Conditions Acute ...
Coproporphyria, hereditary. *Corpus callosum agenesis type 2. *Crome syndrome. *Cyanides. *Cycloserine. *Cystathionine beta- ...
result sql = Hereditary coproporphyria. Hereditary coproporphyria 31. char = E;code = 69. char = n;code = 110. char = z;code = ... start str = Hereditary coproporphyria. sql str = Hereditary coproporphyria. Variegate porphyria and Hereditary coproporphyria ...
Hereditary coproporphyria is a rare autosomal dominant porphyria that results from a deficiency of coproporphyrinogen oxidase. ... The acute porphyrias include acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and ALA-D-deficiency ... and hereditary coproporphyria).1,2 In pseudoporphyria, individuals develop blistering and skin fragility similar to that of PCT ... In the United States, 94% of PCT patients are infected with hepatitis C. Additionally, 20% of patients have hereditary ...
... in catalysis and explains the deleterious effect of many of the mutations associated with the disease hereditary coproporphyria ...
... hereditary coproporphyria, and variegate porphyria [1, 2]. Factors such as cytochrome P450-inducing drugs, dieting, or hormonal ...
What causes heme to be produced in coproporphyria?. Hereditary Coproporphyria is caused by mutations in the CPOX gene on ...
... and four patients with hereditary coproporphyria, whose plasma specimens were similarly examined, had plasma fluorescence ...
With other manifestations 277.1 Disorders of porphyrin metabolism Hematoporphyria Hematoporphyrinuria Hereditary coproporphyria ... Hereditary amyloid nephropathy Periodic familial polyserositis Recurrent polyserositis 277.39 Other amyloidosis Hereditary ... hereditary hemolytic anemias (282.0-282.9) 273.0 Polyclonal hypergammaglobulinemia Hypergammaglobulinemic purpura: benign ... von Gierkes disease 271.1 Galactosemia Galactose-1-phosphate uridyl transferase deficiency Galactosuria 271.2 Hereditary ...
Porphyrias that can have both blistering cutaneous features and acute neurovisceral attacks include hereditary coproporphyria ...
1 patient with hereditary coproporphyria [HCP], and 2 patients with no identified mutation). Eligible patients were randomized ...
... third-party genetic testing and counseling for people with a family history or suspected diagnosis of hereditary ATTR (hATTR) ... All four types of AHP-acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD- ... third-party genetic testing and counseling program for patients with a family history or suspected diagnosis of hereditary ATTR ...
Skin symptoms in variegate porphyria and hereditary coproporphyria Fragile skin and bullous eruptions may develop on sun- ... Patients with variegate porphyria and hereditary coproporphyria, with or without neurovisceral symptoms, may develop bullous ... Exposure to sunlight precipitates cutaneous symptoms in variegate porphyria and rarely also in hereditary coproporphyria. ... Carriers of variegate porphyria or hereditary coproporphyria should minimize sun exposure; sunscreens that block only ...
... hereditary coproporphyria (HCP), and variegate porphyria (VP), are characterized by neurovisceral attacks that can cause ... Lead poisoning and hereditary tyrosinemia type I can cause neuropathies similar to those of acute intermittent porphyria (AIP ... ALA may also be increased in lead intoxication and hereditary tyrosinemia type I. ...
Analysis of the mechanism underlying a mild phenotype of hereditary coproporphyria due to a homozygous missense mutation in the ...
Hereditary coproporphyria [HCP] and variegate porphyria [VP] in the United States: Initial results from the longitudinal study ... Hereditary Coproporphyria. Gene Reviews, 2012. PMID 23236641. *Anderson KE: Congenital erythropoietic porphyria. In: UpToDate, ... Hereditary Coproporphyria Mimicking Guillain-Barre Syndrome After COVID-1 Infection. Cureus. DOI 10.7759/cureus.21586 ...
Hereditary Coproporphyria. Hyponatremia, Abnormal circulating porphyrin concentration. ORPHA:79273. Juvenile Nephropathic ...
coproporphyria, hereditary, hemin, hepatic porphyria, hypertension, hyponatremia, porphobilinogen, porphyria, intermittent, ... Hereditary coproporphyria Autosomal dominant Coproporphyrinogen oxidase (sixth) Mitochondrial ~ 50 36 3q12 +121300 ... Hereditary coproporphyria Autosomal dominant Coproporphyrinogen oxidase (sixth) Mitochondrial ~ 50 36 3q12 +121300 ... Hereditary coproporphyria Normal Increased, mostly coproporphyrin Increased, mostly coproporphyrin† Usually normal Variegate ...
  • Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. (wikipedia.org)
  • In a retrospective analysis of 467 patients, Whatley et al examined the diagnostic accuracy of plasma fluorescence scanning, fecal porphyrin analysis, and porphobilinogen deaminase (PBGD) assay in differentiating between coproporphyria, acute intermittent porphyria (AIP), and variegate porphyria (VP). (medscape.com)
  • Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. (nih.gov)
  • Co-existence of hereditary coproporphyria and porphyria cutanea tarda: The importance of genetic testing. (nih.gov)
  • 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)
  • 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)
  • Quantitative stool studies help to differentiate between hereditary coproporphyria (HCP) and variegate porphyria (VP), because these disorders have identical urine porphyrin profiles. (medscape.com)
  • Patients with variegate porphyria and hereditary coproporphyria, with or without neurovisceral symptoms, may develop bullous eruptions especially on the hands, forearms, face, neck, or other areas of the skin exposed to sunlight. (msdmanuals.com)
  • Exposure to sunlight precipitates cutaneous symptoms in variegate porphyria and rarely also in hereditary coproporphyria. (msdmanuals.com)
  • two of these, Variegate Porphyria and Hereditary Coproporphyria, may also have skin symptoms of blistering after sun exposure. (porphyriafoundation.org)
  • There are four types of acute Porphyrias: Acute Intermittent Porphyria ( AIP ), Hereditary Coproporphyria ( HCP ), Variegate Porphyria ( VP ), and δ-aminolevulinic acid dehydratase (ALAD) Porphyria ( ADP ), which are characterized by episodes of debilitating attacks. (porphyriafoundation.org)
  • Approximately 80-90% of individuals who carry a gene mutation for Acute Intermittent Porphyria, Variegate Porphyria, and Hereditary Coproporphyria remain asymptomatic, and others may have only one or a few acute attacks throughout life. (porphyriafoundation.org)
  • Alnylam Act® is a sponsored, no-charge, third-party genetic testing and counseling program for patients with a family history or suspected diagnosis of hereditary ATTR (hATTR) amyloidosis, acute hepatic porphyria, or primary hyperoxaluria type 1. (alnylam.com)
  • All four types of AHP-acute intermittent porphyria (AIP), variegate porphyria (VP), hereditary coproporphyria (HCP), and ALAD-deficient porphyria (ADP)-are characterized by acute, potentially life-threatening attacks and in some patients, chronic debilitating symptoms that negatively impact patients' quality of life. (alnylam.com)
  • Acute porphyrias include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALA dehydratase deficiency porphyria (ADP). (targetwoman.com)
  • The literature distinguishes between: Acute Intermittent Porphyria (AIP), Hereditary Coproporphyria (HCP), Variegate Porphyria (VP) and Aminolevulinic Dehydratic ADP (ADP) deficiency. (umk.pl)
  • The acute hepatic porphyrias (AHP) are rare, inborn errors of heme-metabolism and include acute intermittent porphyria, hereditary coproporphyria, variegate porphyria, and porphyria due to severe deficiency of 5-aminolevulinic acid dehydratase. (medthority.com)
  • AHP is comprised of four subtypes, each resulting from a genetic defect leading to deficiency in one of the enzymes of the heme biosynthesis pathway in the liver: acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), variegate porphyria (VP), and ALAD-deficiency porphyria (ADP). (alnylam.com)
  • Porphyrias can be hereditary-related or acquired through exogenous influences such as alcohol consumption or lead poisoning . (healthmatters.io)
  • When accompanied by neurological or abdominal symptoms, hereditary coproporphyria should be considered in the differential diagnoses of unexplained neuropsychiatric symptoms such as confusion, hallucinations, anxiety and psychosis. (medscape.com)
  • Abstract - Background: Hereditary Coproporphyria (HCP) is characterized by abdominal pain, neurologic symptoms and psychiatric disorders, even if it might remain asymptomatic. (drexrx.com)
  • Barbaro M, Kotajärvi M, Harper P, Floderus Y. Identification of an AluY-mediated deletion of exon 5 in the CPOX gene by MLPA analysis in patients with hereditary coproporphyria. (medscape.com)
  • Genetic counseling is also crucial for affected individuals and their families due to the hereditary nature of the disorder. (targetwoman.com)
  • coproporphyrin III has also been linked to the inborn metabolic disorder hereditary coproporphyria. (foodb.ca)
  • Defects in this gene are a cause of hereditary coproporphyria (HCP). (nih.gov)
  • Haimowitz S, Hsieh J, Shcherba M, Averbukh Y. Liver failure after Hydroxycut™ use in a patient with undiagnosed hereditary coproporphyria. (medscape.com)
  • After an extensive workup, the etiology of the liver failure was determined to be due to hereditary coprophorphyria (HCP). (nih.gov)
  • The autopsy pathologist found that Cameron's death may have been related to a rare blood disease called hereditary coproporphyria , which they later learned David, Melia and Sienna have too. (aftertalk.com)
  • Recognized exacerbating factors of PCT include iron overload, excessive use of alcohol, exposure to polyhalogenated aromatic chemicals, exposure to estrogens, chronic viral hepatitis C, HIV infections, and mutation in the HFE gene (613609) that are responsible for hereditary hemochromatosis (235200) (review by Lambrecht et al. (nih.gov)