Related Experiment Video
Updated: Jul 6, 2026
12:27
Technique of Porcine Liver Procurement and Orthotopic Transplantation using an Active Porto-Caval Shunt
Published on: May 7, 2015
[Acute intermittent porphyria and chronic transaminase elevation]
M Yolanda Raigal Martín1, José Luis Lledó Navarro, José María Raigal Martín
1Medicina Familiar y Comunitaria, Area 5, Madrid, Spain. yraigal63@yahoo.es
Gastroenterologia Y Hepatologia
|April 15, 2008
Summary
Acute intermittent porphyria (AIP) is a rare genetic disorder affecting heme biosynthesis. This case highlights chronic mild alanine aminotransferase elevation as a potential diagnostic clue for AIP.
Area of Science:
- Biochemistry
- Genetics
- Heme Biosynthesis
Background:
- Acute intermittent porphyria (AIP) is an autosomal dominant inherited disorder caused by deficient porphobilinogen deaminase.
- It affects the heme biosynthesis pathway, leading to a multisystemic disease with neurological and abdominal symptoms.
- Precipitating factors include poor nutrition, smoking, alcohol, certain drugs, and stress.
Observation:
- Diagnosis of AIP typically involves urinary porphobilinogen levels, enzyme activity assays, and DNA testing.
- The case study focuses on a patient with chronic mild alanine aminotransferase (ALT) elevation.
- This elevation served as the basis for diagnosing acute intermittent porphyria.
Findings:
- A deficiency in porphobilinogen deaminase activity characterizes AIP.
- The study identified chronic mild ALT elevation as a potential, albeit uncommon, indicator for AIP diagnosis.
- This suggests a possible link between liver enzyme abnormalities and AIP.
Implications:
- Recognizing ALT elevation as a potential diagnostic marker could lead to earlier identification of AIP patients.
- This may improve the management and prevention of porphyria attacks.
- Further research is warranted to explore the relationship between liver enzymes and AIP pathogenesis.
Related Concept Videos
01:25Chronic Pancreatitis I: Introduction
Chronic pancreatitis is a long-standing, relapsing inflammation of the pancreas, characterized by irreversible damage to the gland. It results in progressive destruction of the pancreatic parenchyma, fibrosis, and eventual loss of both exocrine and endocrine function. The disease may evolve gradually after multiple episodes of acute pancreatitis or develop independently.EtiologyChronic pancreatitis can arise from a variety of causes:Alcohol use is the leading cause, accounting for 70–80% of...
01:24Chronic Pancreatitis I: Introduction
The pancreas, an elongated and flat gland situated behind the stomach, serves a vital function in digesting food and managing blood sugar levels.
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
Pancreatitis is the inflammation of the pancreas, which occurs when the immune system becomes active and causes swelling, pain, and disruptions in organ function. Pancreatitis can manifest as either an acute or chronic condition.
Acute pancreatitis arises suddenly and lasts for a brief duration, while chronic pancreatitis is a long-term affliction...
01:25Acute Pancreatitis I: Introduction
Acute pancreatitis is the sudden inflammation of the pancreas caused by the early activation of digestive enzymes, leading to the autodigestion of pancreatic tissue. This results in local inflammation and, in severe cases, systemic complications.EtiologyUnderstanding the underlying causes is crucial, as identifying the etiology guides treatment and anticipates complications. Acute pancreatitis can be triggered by various factors, typically grouped into the following clinical categories.Biliary...
01:27Acute Pancreatitis I: Introduction
Pancreatitis is inflammation of the pancreas, an organ located behind the stomach. It can be either acute or chronic.
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
Acute pancreatitis is characterized by rapid inflammation of the pancreas, often caused by factors like gallstone blockage or excessive alcohol consumption. Chronic pancreatitis, on the other hand, is a slow, progressive inflammation that may result from long-term alcohol abuse, obstructions in the pancreatic duct, or genetic factors.
The causes of acute pancreatitis include:
01:27Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
01:21Chronic Pancreatitis II: Pathophysiology
Chronic pancreatitis is a progressive and irreversible inflammation of the pancreas, most often caused by long-term alcohol abuse, but it can also be related to ductal obstruction, smoking, or genetic factors.Chronic pancreatitis occurs when the pancreas is repeatedly exposed to harmful agents like alcohol, smoking, ductal obstruction, or genetic predisposition. These factors lead to the release of toxic metabolites and inflammatory cytokines, sustaining chronic inflammation in the pancreatic...