en.unionpedia.org

Acute intermittent porphyria, the Glossary

Acute intermittent porphyria (AIP) is a rare metabolic disorder affecting the production of heme resulting from a deficiency of the enzyme porphobilinogen deaminase.^[1]

79 relations: Abdominal pain, Acute (medicine), Anesthetic, Antibiotic, Anticonvulsant, Asymptomatic, Autonomic nervous system, Barbiturate, Benzodiazepine, Blood–brain barrier, Carbohydrate, Central nervous system, Chromosome 11, Colic, Cytochrome P450, Cytoplasm, Dehydration, Dieting, Dominance (genetics), Enzyme, Feces, Gabapentin, Gene, Genetic testing, George III, Glucose, Haematin, Hallucination, Heme, Heme arginate, Hereditary coproporphyria, Hormonal contraception, Hydroxymethylbilane, Hyponatremia, Inheritance, Jean-Jacques Rousseau, Locus (genetics), Magnesium deficiency, Management of HIV/AIDS, Medical genetics, Metabolism, Mitochondrion, Mutation, Mutation testing, Neuron, Oligogenic inheritance, Pain, Paralysis, Paresis, Pathognomonic, ... Expand index (29 more) »
Porphyrias

Abdominal pain

Abdominal pain, also known as a stomach ache, is a symptom associated with both non-serious and serious medical issues.

See Acute intermittent porphyria and Abdominal pain

Acute (medicine)

In medicine, describing a disease as acute denotes that it is of recent onset; it occasionally denotes a short duration.

See Acute intermittent porphyria and Acute (medicine)

An anesthetic (American English) or anaesthetic (British English; see spelling differences) is a drug used to induce anesthesia ⁠— ⁠in other words, to result in a temporary loss of sensation or awareness.

See Acute intermittent porphyria and Anesthetic

Antibiotic

An antibiotic is a type of antimicrobial substance active against bacteria.

See Acute intermittent porphyria and Antibiotic

Anticonvulsant

Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures.

See Acute intermittent porphyria and Anticonvulsant

Asymptomatic

Asymptomatic (or clinically silent) is an adjective categorising the medical conditions (i.e., injuries or diseases) that patients carry but without experiencing their symptoms, despite an explicit diagnosis (e.g., a positive medical test).

See Acute intermittent porphyria and Asymptomatic

Autonomic nervous system

The autonomic nervous system (ANS), sometimes called the visceral nervous system and formerly the vegetative nervous system, is a division of the nervous system that operates internal organs, smooth muscle and glands.

See Acute intermittent porphyria and Autonomic nervous system

Barbiturate

Barbiturates are a class of depressant drugs that are chemically derived from barbituric acid.

See Acute intermittent porphyria and Barbiturate

Benzodiazepine

Benzodiazepines (BZD, BDZ, BZs), colloquially called "benzos", are a class of depressant drugs whose core chemical structure is the fusion of a benzene ring and a diazepine ring.

See Acute intermittent porphyria and Benzodiazepine

Blood–brain barrier

The blood–brain barrier (BBB) is a highly selective semipermeable border of endothelial cells that regulates the transfer of solutes and chemicals between the circulatory system and the central nervous system, thus protecting the brain from harmful or unwanted substances in the blood.

See Acute intermittent porphyria and Blood–brain barrier

Carbohydrate

A carbohydrate is a biomolecule consisting of carbon (C), hydrogen (H) and oxygen (O) atoms, usually with a hydrogen–oxygen atom ratio of 2:1 (as in water) and thus with the empirical formula (where m may or may not be different from n), which does not mean the H has covalent bonds with O (for example with, H has a covalent bond with C but not with O).

See Acute intermittent porphyria and Carbohydrate

Central nervous system

The central nervous system (CNS) is the part of the nervous system consisting primarily of the brain and spinal cord.

See Acute intermittent porphyria and Central nervous system

Chromosome 11

Chromosome 11 is one of the 23 pairs of chromosomes in humans.

See Acute intermittent porphyria and Chromosome 11

Colic

Colic or cholic is a form of pain that starts and stops abruptly.

See Acute intermittent porphyria and Colic

Cytochrome P450

Cytochromes P450 (P450s or CYPs) are a superfamily of enzymes containing heme as a cofactor that mostly, but not exclusively, function as monooxygenases.

See Acute intermittent porphyria and Cytochrome P450

Cytoplasm

In cell biology, the cytoplasm describes all material within a eukaryotic cell, enclosed by the cell membrane, except for the cell nucleus.

See Acute intermittent porphyria and Cytoplasm

Dehydration

In physiology, dehydration is a lack of total body water, with an accompanying disruption of metabolic processes.

See Acute intermittent porphyria and Dehydration

Dieting

Dieting is the practice of eating food in a regulated way to decrease, maintain, or increase body weight, or to prevent and treat diseases such as diabetes and obesity.

See Acute intermittent porphyria and Dieting

Dominance (genetics)

In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. Acute intermittent porphyria and dominance (genetics) are autosomal dominant disorders.

See Acute intermittent porphyria and Dominance (genetics)

Enzyme

Enzymes are proteins that act as biological catalysts by accelerating chemical reactions.

See Acute intermittent porphyria and Enzyme

Feces

Feces (or faeces;: faex) are the solid or semi-solid remains of food that was not digested in the small intestine, and has been broken down by bacteria in the large intestine.

See Acute intermittent porphyria and Feces

Gabapentin

Gabapentin, sold under the brand name Neurontin among others, is an anticonvulsant medication primarily used to treat partial seizures and neuropathic pain.

See Acute intermittent porphyria and Gabapentin

Gene

In biology, the word gene has two meanings.

See Acute intermittent porphyria and Gene

Genetic testing

Genetic testing, also known as DNA testing, is used to identify changes in DNA sequence or chromosome structure.

See Acute intermittent porphyria and Genetic testing

George III

George III (George William Frederick; 4 June 173829 January 1820) was King of Great Britain and Ireland from 25 October 1760 until his death in 1820.

See Acute intermittent porphyria and George III

Glucose

Glucose is a sugar with the molecular formula.

See Acute intermittent porphyria and Glucose

Haematin

Haematin (also known as hematin, ferriheme, hematosin, hydroxyhemin, oxyheme, phenodin, or oxyhemochromogen) is a dark bluish or brownish pigment containing iron in the ferric state, obtained by the oxidation of haem.

See Acute intermittent porphyria and Haematin

Hallucination

A hallucination is a perception in the absence of an external stimulus that has the compelling sense of reality.

See Acute intermittent porphyria and Hallucination

Heme

Heme (American English), or haem (Commonwealth English, both pronounced /hi:m/), is a ring-shaped iron-containing molecular component of hemoglobin, which is necessary to bind oxygen in the bloodstream.

See Acute intermittent porphyria and Heme

Heme arginate

Heme arginate (or haem arginate) is a compound of heme and arginine used in the treatment of acute porphyrias.

See Acute intermittent porphyria and Heme arginate

Hereditary coproporphyria

Hereditary coproporphyria (HCP) is a disorder of heme biosynthesis, classified as an acute hepatic porphyria. Acute intermittent porphyria and Hereditary coproporphyria are porphyrias.

See Acute intermittent porphyria and Hereditary coproporphyria

Hormonal contraception

Hormonal contraception refers to birth control methods that act on the endocrine system.

See Acute intermittent porphyria and Hormonal contraception

Hydroxymethylbilane

Hydroxymethylbilane, also known as preuroporphyrinogen, is an organic compound that occurs in living organisms during the synthesis of porphyrins, a group of critical substances that include haemoglobin, myoglobin, and chlorophyll.

See Acute intermittent porphyria and Hydroxymethylbilane

Hyponatremia

Hyponatremia or hyponatraemia is a low concentration of sodium in the blood.

See Acute intermittent porphyria and Hyponatremia

Inheritance

Inheritance is the practice of receiving private property, titles, debts, entitlements, privileges, rights, and obligations upon the death of an individual.

See Acute intermittent porphyria and Inheritance

Jean-Jacques Rousseau

Jean-Jacques Rousseau (28 June 1712 – 2 July 1778) was a Genevan philosopher (philosophe), writer, and composer.

See Acute intermittent porphyria and Jean-Jacques Rousseau

Locus (genetics)

In genetics, a locus (loci) is a specific, fixed position on a chromosome where a particular gene or genetic marker is located.

See Acute intermittent porphyria and Locus (genetics)

Magnesium deficiency

Magnesium deficiency is an electrolyte disturbance in which there is a low level of magnesium in the body.

See Acute intermittent porphyria and Magnesium deficiency

Management of HIV/AIDS

The management of HIV/AIDS normally includes the use of multiple antiretroviral drugs as a strategy to control HIV infection.

See Acute intermittent porphyria and Management of HIV/AIDS

Medical genetics

Medical genetics is the branch of medicine that involves the diagnosis and management of hereditary disorders.

See Acute intermittent porphyria and Medical genetics

Metabolism (from μεταβολή metabolē, "change") is the set of life-sustaining chemical reactions in organisms.

See Acute intermittent porphyria and Metabolism

Mitochondrion

A mitochondrion is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi.

See Acute intermittent porphyria and Mitochondrion

Mutation

In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA.

See Acute intermittent porphyria and Mutation

Mutation testing

Mutation testing (or mutation analysis or program mutation) is used to design new software tests and evaluate the quality of existing software tests.

See Acute intermittent porphyria and Mutation testing

Neuron

A neuron, neurone, or nerve cell is an excitable cell that fires electric signals called action potentials across a neural network in the nervous system.

See Acute intermittent porphyria and Neuron

Oligogenic inheritance

Oligogenic inheritance (Greek ὀλίγος – ὀligos.

See Acute intermittent porphyria and Oligogenic inheritance

Pain

Pain is a distressing feeling often caused by intense or damaging stimuli.

See Acute intermittent porphyria and Pain

Paralysis

Paralysis (paralyses; also known as plegia) is a loss of motor function in one or more muscles.

See Acute intermittent porphyria and Paralysis

Paresis

In medicine, paresis is a condition typified by a weakness of voluntary movement, or by partial loss of voluntary movement or by impaired movement.

See Acute intermittent porphyria and Paresis

Pathognomonic

Pathognomonic (rare synonym pathognomic) is a term, often used in medicine, that means "characteristic for a particular disease".

See Acute intermittent porphyria and Pathognomonic

Penetrance

Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (genotype) that also expresses an associated trait (phenotype).

See Acute intermittent porphyria and Penetrance

Peripheral nervous system

The peripheral nervous system (PNS) is one of two components that make up the nervous system of bilateral animals, with the other part being the central nervous system (CNS).

See Acute intermittent porphyria and Peripheral nervous system

Phenothiazine

Phenothiazine, abbreviated PTZ, is an organic compound that has the formula S(C6H4)2NH and is related to the thiazine-class of heterocyclic compounds.

See Acute intermittent porphyria and Phenothiazine

Photosensitivity

Photosensitivity is the amount to which an object reacts upon receiving photons, especially visible light.

See Acute intermittent porphyria and Photosensitivity

Physiology

Physiology is the scientific study of functions and mechanisms in a living system.

See Acute intermittent porphyria and Physiology

Porphobilinogen

Porphobilinogen (PBG) is an organic compound that occurs in living organisms as an intermediate in the biosynthesis of porphyrins, which include critical substances like hemoglobin and chlorophyll.

See Acute intermittent porphyria and Porphobilinogen

Porphobilinogen deaminase

Porphobilinogen deaminase (hydroxymethylbilane synthase, or uroporphyrinogen I synthase) is an enzyme that in humans is encoded by the HMBS gene.

See Acute intermittent porphyria and Porphobilinogen deaminase

Porphyria

Porphyria is a group of disorders in which substances called porphyrins build up in the body, adversely affecting the skin or nervous system. Acute intermittent porphyria and porphyria are porphyrias.

See Acute intermittent porphyria and Porphyria

Prince William of Gloucester

Prince William of Gloucester (William Henry Andrew Frederick; 18 December 1941 – 28 August 1972) was a member of the British royal family.

See Acute intermittent porphyria and Prince William of Gloucester

Protein biosynthesis

Protein biosynthesis (or protein synthesis) is a core biological process, occurring inside cells, balancing the loss of cellular proteins (via degradation or export) through the production of new proteins.

See Acute intermittent porphyria and Protein biosynthesis

Protein isoform

A protein isoform, or "protein variant", is a member of a set of highly similar proteins that originate from a single gene or gene family and are the result of genetic differences.

See Acute intermittent porphyria and Protein isoform

Psychosis

Psychosis is a condition of the mind or psyche that results in difficulties determining what is real and what is not real.

See Acute intermittent porphyria and Psychosis

Quantitative trait locus

A quantitative trait locus (QTL) is a locus (section of DNA) that correlates with variation of a quantitative trait in the phenotype of a population of organisms.

See Acute intermittent porphyria and Quantitative trait locus

Red blood cell

Red blood cells (RBCs), referred to as erythrocytes (with -cyte translated as 'cell' in modern usage) in academia and medical publishing, also known as red cells, erythroid cells, and rarely haematids, are the most common type of blood cell and the vertebrate's principal means of delivering oxygen to the body tissues—via blood flow through the circulatory system.

See Acute intermittent porphyria and Red blood cell

Schizophrenia

Schizophrenia is a mental disorder characterized by reoccurring episodes of psychosis that are correlated with a general misperception of reality.

See Acute intermittent porphyria and Schizophrenia

Seizure

A seizure is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain.

See Acute intermittent porphyria and Seizure

Skin

Skin is the layer of usually soft, flexible outer tissue covering the body of a vertebrate animal, with three main functions: protection, regulation, and sensation.

See Acute intermittent porphyria and Skin

Syndrome of inappropriate antidiuretic hormone secretion

The syndrome of inappropriate antidiuretic hormone secretion (SIADH), also known as the syndrome of inappropriate antidiuresis (SIAD), is characterized by a physiologically inappropriate release of antidiuretic hormone (ADH) either from the posterior pituitary gland, or an abnormal non-pituitary source.

See Acute intermittent porphyria and Syndrome of inappropriate antidiuretic hormone secretion

Syphilis

Syphilis is a sexually transmitted infection caused by the bacterium Treponema pallidum subspecies pallidum.

See Acute intermittent porphyria and Syphilis

Tachycardia

Tachycardia, also called tachyarrhythmia, is a heart rate that exceeds the normal resting rate.

See Acute intermittent porphyria and Tachycardia

Tendon reflex

Tendon reflex (or T-reflex) may refer to.

See Acute intermittent porphyria and Tendon reflex

Theo van Gogh (art dealer)

Theodorus van GoghNaifeh, Steven and Gregory White Smith.

See Acute intermittent porphyria and Theo van Gogh (art dealer)

Urinalysis

Urinalysis, a portmanteau of the words urine and analysis, is a panel of medical tests that includes physical (macroscopic) examination of the urine, chemical evaluation using urine test strips, and microscopic examination.

See Acute intermittent porphyria and Urinalysis

Urine

Urine is a liquid by-product of metabolism in humans and in many other animals.

See Acute intermittent porphyria and Urine

Variegate porphyria

Variegate porphyria, also known by several other names, is an autosomal dominant porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. Acute intermittent porphyria and Variegate porphyria are autosomal dominant disorders and porphyrias.

See Acute intermittent porphyria and Variegate porphyria

References

[1] https://en.wikipedia.org/wiki/Acute_intermittent_porphyria

Also known as Porphyria, acute intermittent.

, Penetrance, Peripheral nervous system, Phenothiazine, Photosensitivity, Physiology, Porphobilinogen, Porphobilinogen deaminase, Porphyria, Prince William of Gloucester, Protein biosynthesis, Protein isoform, Psychosis, Quantitative trait locus, Red blood cell, Schizophrenia, Seizure, Skin, Syndrome of inappropriate antidiuretic hormone secretion, Syphilis, Tachycardia, Tendon reflex, Theo van Gogh (art dealer), Urinalysis, Urine, Variegate porphyria, Vincent van Gogh, Vlad the Impaler, Watson–Schwartz test, Zygosity.

Acute intermittent porphyria, the Glossary

Table of Contents

See also

Porphyrias

References