Related Experiment Video
Updated: Jul 20, 2025
09:02
Percutaneous Hepatic Perfusion PHP with Melphalan as a Treatment for Unresectable Metastases Confined to the Liver
Published on: July 31, 2016
12.0K
Update on the Porphyrias
Amy K Dickey1,2, Rebecca Karp Leaf2,3, Manisha Balwani4
1Division of Pulmonary and Critical Care Medicine, Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA;
Annual Review of Medicine
|August 4, 2023
Summary
The porphyrias are rare genetic diseases caused by enzyme defects in heme production. Early diagnosis and management are crucial for preventing complications from these multisystemic disorders.
Area of Science:
- Biochemistry
- Genetics
- Internal Medicine
Background:
- Porphyrias are rare genetic disorders stemming from enzymatic defects in the heme biosynthetic pathway.
- These diseases are classified as hepatic or erythropoietic based on heme intermediate accumulation.
- They present as multisystemic conditions with diverse clinical manifestations.
Purpose of the Study:
- To provide a comprehensive review of the porphyrias.
- To describe their clinical presentation, diagnostic approaches, and management strategies.
- To discuss emerging and approved novel therapies.
Main Methods:
- Literature review of porphyria research.
- Analysis of clinical presentation, diagnosis, and management.
- Review of current and developing therapeutic options.
Main Results:
- Porphyrias result from specific enzyme deficiencies in heme synthesis.
- Symptoms vary widely and affect multiple organ systems.
- Effective management relies on early detection and tailored treatment.
Conclusions:
- Porphyrias require a multidisciplinary approach for diagnosis and management.
- Prompt identification is essential to mitigate long-term health consequences.
- Novel therapeutic strategies offer improved treatment prospects.
Keywords:
acute hepatic porphyriaacute intermittent porphyriacongenital erythropoietic porphyriaerythropoietic protoporphyriaporphyriaporphyria cutanea tardaprotoporphyriaMore Related Videos
Related Concept Videos
01:12Porin Insertion in the Outer Mitochondrial Membrane
3.1K
Porins are beta-barrel proteins translocated to the mitochondrial outer membrane through the TOM complex into the intermembrane space. Porin precursors bind TIM chaperones within the intermembrane space and are guided to the Sorting and Assembly Machinery complex or SAM complex on the outer mitochondrial membrane.
Three models describe the assembly of porins by the SAM complex and their insertion into the outer membrane. Model 1 suggests that porins are assembled outside the SAM channel as the...
Three models describe the assembly of porins by the SAM complex and their insertion into the outer membrane. Model 1 suggests that porins are assembled outside the SAM channel as the...
3.1K
01:20Fates of Pyruvate
8.7K
Pyruvate is the end product of glycolysis, where glucose is oxidized to pyruvate, simultaneously reducing NAD+ to NADH. Two molecules of ATP are also produced by substrate-level phosphorylation.
In aerobic organisms, pyruvate is metabolized via the citric acid cycle to produce reduced coenzymes NADH and FADH2. These coenzymes are then oxidized in the electron transport chain to produce ATP and, in the process, regenerate the NAD+ and FAD. As seen in some cell types and organisms, fermentation...
In aerobic organisms, pyruvate is metabolized via the citric acid cycle to produce reduced coenzymes NADH and FADH2. These coenzymes are then oxidized in the electron transport chain to produce ATP and, in the process, regenerate the NAD+ and FAD. As seen in some cell types and organisms, fermentation...
8.7K
01:15Pyruvate Oxidation
159.5K
After glycolysis, the charged pyruvate molecules enter the mitochondria via active transport and undergo three enzymatic reactions. These reactions ensure that pyruvate can enter the next metabolic pathway so that energy stored in the pyruvate molecules can be harnessed by the cells.
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
First, the enzyme pyruvate dehydrogenase removes the carboxyl group from pyruvate and releases it as carbon dioxide. The stripped molecule is then oxidized and releases electrons, which are then picked up by NAD+...
159.5K
02:49Corrosion
25.1K
The degradation of metals due to natural electrochemical processes is known as corrosion. Rust formation on iron, tarnishing of silver, and the blue-green patina that develops on copper are examples of corrosion. Corrosion involves the oxidation of metals. Sometimes it is protective, such as the oxidation of copper or aluminum, wherein a protective layer of metal oxide or its derivatives forms on the surface, protecting the underlying metal from further oxidation. In other cases, corrosion is...
25.1K
01:30Peripheral Artery Disease I: Introduction
9
Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs but also impacts other areas, such as the arms, thereby impairing overall circulation and organ function.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty deposits inside the arterial...
9
01:17Oxidation of Phenols to Quinones
3.1K
In the presence of oxidizing agents, phenols are oxidized to quinones. Quinones can be easily reduced back to phenols using mild reducing agents. The electron-donating hydroxyl group enhances the reactivity of the aromatic ring, enabling oxidation of the ring even in the absence of an α hydrogen.
o-hydroxy phenols are oxidized to o-quinones and p-hydroxy phenols to p-quinones. Such redox reactions involve the transfer of two electrons and two protons. The reversible redox...
o-hydroxy phenols are oxidized to o-quinones and p-hydroxy phenols to p-quinones. Such redox reactions involve the transfer of two electrons and two protons. The reversible redox...
3.1K