acquired metabolic disease

Acquired Metabolic Disease: A Condition Caused by Enzyme Deficiency or Accumulation

Acquired metabolic disease, also known as acquired metabolic disorder, is a condition that arises during an individual's lifetime due to various factors. This type of disease is caused by enzyme deficiency or accumulation of enzymes/toxins, leading to abnormal function.

Causes and Characteristics

• Acquired metabolic diseases are not inherited but rather developed over time due to environmental factors, lifestyle choices, or exposure to toxins.
• These conditions can result from enzyme deficiencies or abnormalities in their function, which disrupts the body's normal metabolic processes.
• The symptoms and characteristics of acquired metabolic disease can vary widely depending on the specific condition.

Examples and Prevalence

• Metabolic syndrome is a group of conditions that together increase the risk of cardiovascular disease, Type 2 diabetes, and stroke. It affects millions of people worldwide.
• Lipodystrophic disorders are associated with metabolic syndrome and can be either genetic or acquired in nature.
• Acquired toxic-metabolic diseases can result from exposure to toxins, which can lead to a range of health problems.

Prevention and Treatment

• Prevention of acquired metabolic disease often involves lifestyle changes such as healthy eating, regular exercise, and maintaining a healthy weight.
• In some cases, medications or other treatments may be necessary to manage the condition.
• Early detection and intervention are crucial in preventing long-term complications associated with acquired metabolic diseases.

References:

• [4] - Acquired metabolic disease is described as an instance of metabolic disease that is acquired during the lifetime of the individual.
• [9] - This chapter describes the neuropathological changes observed in a wide range of systemic acquired metabolic diseases.
• [10] - This chapter starts with a description of imaging of inherited metabolic disorders, followed by a discussion on imaging of acquired toxic-metabolic diseases.

Acquired Metabolic Diseases: Signs and Symptoms

Metabolic diseases can be caused by various factors, including genetic disorders, environmental toxins, and lifestyle choices. Acquired metabolic diseases are those that develop over time due to external factors, rather than being present from birth.

• Breathing problems: Some acquired metabolic diseases can cause respiratory issues, such as difficulty breathing or shortness of breath [8].
• Seizures: Certain metabolic disorders can lead to seizures, which can be a life-threatening symptom [8].
• Organ failure: In severe cases, acquired metabolic diseases can cause organ failure, including kidney or liver failure [8].
• Fatigue and weakness: Many people with acquired metabolic diseases experience fatigue and weakness, as their bodies struggle to process energy properly [3][6].
• Weight loss or gain: Changes in weight can be a sign of an underlying metabolic disorder [3][6].
• Nausea and vomiting: Some individuals may experience nausea and vomiting due to the buildup of toxic substances in their body [4].

It's essential to note that these symptoms can vary widely depending on the specific disease and individual. If you're experiencing any unusual health issues, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [3] - Context 3 [4] - Context 4 [6] - Context 6 [8] - Context 8

Diagnostic Tests for Acquired Metabolic Disease

Acquired metabolic diseases, also known as adult-onset or acquired inborn errors of metabolism, can be diagnosed through various tests and examinations. Here are some diagnostic tests that may be used to diagnose acquired metabolic disease:

• Blood tests: Blood tests can help identify abnormalities in blood sugar levels, electrolyte imbalances, and other metabolic markers. These tests include:
  • Fasting blood glucose test: Measures the level of glucose in the blood after an overnight fast [14].
  • Lipid profile: Assesses the levels of triglycerides, LDL cholesterol, and HDL cholesterol in the blood [8].
• Physical examination: A physical exam can help identify signs of metabolic syndrome, such as high blood pressure, abdominal obesity, and insulin resistance.
• Waist circumference measurement: Measuring waist circumference can help determine if a person has abdominal obesity, one of the conditions of metabolic syndrome [6].
• Genetic testing: Genetic testing may be ordered to confirm if a healthcare provider suspects a genetic metabolic disorder based on symptoms and medical history [15].

First-line biochemistry tests

In addition to these diagnostic tests, first-line biochemistry tests can also be used to diagnose acquired metabolic disease. These tests include:

• Urinary sugars and ketones
• Blood pH and blood gases
• Plasma electrolytes
• Renal and liver function tests

These tests can help identify abnormalities in metabolism and provide a comprehensive picture of the patient's overall health [9].

References

[6] January 12, 2024 - Waist circumference measurement to determine abdominal obesity.

[8] October 17, 2023 - Discussing risk for metabolic syndrome with your healthcare professional.

[9] First-line biochemistry tests including urinary sugars and ketones, blood pH, blood gases and glucose, plasma electrolytes, and renal and liver function tests.

[14] January 12, 2024 - Fasting blood glucose test to measure glucose levels in the blood.

[15] February 20, 2023 - Genetic testing may be ordered to confirm a genetic metabolic disorder.

Treatment Options for Acquired Metabolic Diseases

Acquired metabolic diseases can be effectively treated through various drug therapies, which aim to normalize the metabolic imbalance and eliminate any underlying causes.

• Enzyme Replacement Therapies: These treatments involve replacing deficient enzymes with functional ones to restore normal metabolic function. This approach is particularly effective in treating enzyme-related disorders.
• Substrate Reduction Therapies: These therapies focus on reducing the levels of substrates that contribute to metabolic imbalances. By decreasing substrate availability, these treatments can help alleviate symptoms and improve overall health.
• Arginine and Sodium Benzoate: For patients with hyperammonemic conditions, arginine and sodium benzoate can be prescribed to help regulate ammonia levels in the body. This treatment approach can be administered without delaying hemodialysis.
• Carnitine Deficiency Treatment: Carnitine deficiency can be treated through supplementation or other targeted therapies.

Emerging Therapies

Recent research has explored the potential of cell-based therapies, such as stem cell-derived metabolic cell types and organoids, in treating metabolic diseases. These innovative approaches may offer promising treatment options for patients with acquired metabolic disorders.

References:

• [1] Current treatment of GD includes enzyme replacement therapies and substrate reduction therapies. (Source: #2)
• [2] For the treatment of hyperammonemic patients, arginine and sodium benzoate can also be prescribed along without hemodialysis delay. Carnitine deficiency can be treated through supplementation or other targeted therapies. (Source: #6)
• [3] Cell-Based Therapies in Metabolic Diseases may be considered promising methods for the treatment of metabolic diseases. Recent research has explored the potential of stem cell-derived metabolic cell types and organoids in this area. (Source: #7)

The differential diagnosis for acquired metabolic diseases involves considering various conditions that can present with similar symptoms and laboratory findings.

• Hypoxic-ischemic lesions: These are a type of brain lesion that can occur due to lack of oxygen and blood flow, which can be caused by various factors such as stroke or cardiac arrest [3].
• Metabolic disease: This is a broad category of disorders that affect the body's metabolic processes, including conditions such as diabetes mellitus and non-alcoholic fatty liver disease [6].
• Toxic and metabolic brain disorders: These are conditions that can cause damage to the brain due to exposure to toxins or other substances, which can be diagnosed through imaging patterns [8].

In addition to these conditions, the differential diagnosis for acquired metabolic diseases may also include:

• Huntington disease: A genetic disorder that affects movement and cognition
• Dentatorubro-pallidoluysian atrophy: A rare genetic disorder that affects movement and cognition
• Juvenile Parkinson's disease: A rare form of Parkinson's disease that affects young people

It is essential to consider a combination of clinical information, laboratory findings, and imaging results to make an accurate differential diagnosis for acquired metabolic diseases [1].

References: [1] Feb 15, 2020 — Only the combination between clinical information, laboratory findings, and imaging will allow to make a solid differential diagnosis. [3] Aug 22, 2019 — Acquired Metabolic Diseases. Imaging Patterns ... differential diagnosis for EPM lesions includes hypoxic-ischemic and metabolic disease. [6] Jun 8, 2021 — Broad categories include disorders of carbohydrate metabolism, disorders of amino acid metabolism, organic acidemias, lysosomal storage diseases ... [8] by AM de Oliveira · 2019 · Cited by 110 — Recognizing the common imaging patterns of toxic and metabolic brain disorders can help radiologists narrow the differential diagnosis and