https://factdr.com/health-conditions/metabolic-disorders/
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A metabolic disorder is a collective term for a group of syndromes that disrupt the normal metabolic processes in the body. The normal metabolic process consists of two mechanisms - anabolism (forming complex molecules from simpler ones) and catabolism (forming simpler molecules from complex ones). Changes in any of the two processes can occur because of certain chemical reactions in the body. These disorders gradually lead to a metabolic block that causes a build-up of toxic molecules inside the body. Two main conditions are seen as metabolic disorders. Very little energy is generated. This is the first condition. Again, the body cannot utilize this energy properly. This is the second condition. Metabolic disorders may impact a few vital organs of the body. These are liver, intestine, and pancreas.
What causes metabolic disorders?
The main causes of metabolic disorders are listed below-
- Infections: Infections caused by a few viral pathogens may cause acid-base imbalance, electrolyte imbalance, and dehydration. Again, infections mediated by few bacterial agents such as Escherichia coli can trigger the secretion of water and electrolytes from the intestinal epithelium. This leads to diarrhea, dehydration and electrolyte imbalance.
- Toxicity: Toxicity induced by certain compounds can damage tissues in the gastrointestinal tract, causing secondary metabolic diseases. For example, certain organophosphate compounds disturb the cholinesterase enzyme function (metabolism of acetylcholine). Again aflatoxin B1, which is a kind of fungal toxin can cause acute liver damage and may even lead to hepatic encephalopathy.
- Medications: Overuse of certain drugs can cause inhibition of necessary enzymatic functions. For example, overuse of Cortisone can inhibit the enzyme phospholipase A2 and may lead to Cushing’s disease.
- Hormones: Hormonal imbalance (during pregnancy or menopause) can disturb normal metabolic processes. Examples of this category are Diabetes mellitus (due to insulin deficiency), Addison’s disease (due to aldosterone deficiency) and Hyperparathyroidism (metabolic bone disease).
- Diet: Several vitamins and essential minerals act as co-factors for different enzymes for energy metabolism. An absence of these nutrients in regular diet can cause metabolic disorders.
- Genetic factors: Several genetic defects (mainly autosomal recessive disorders) may lead to erroneous synthesis or deficiency of enzymes responsible for metabolic activities. Two prominent examples of this category are the diseases causing a deficiency of pyruvate kinase and phenylalanine hydroxylase enzymes.
What are the warning signs?
Metabolic disorders manifest through some common symptoms-
- Hepatic encephalopathy
- Low muscle tone (Hypotonia)
- Liver enlargement (Hepatomegaly)
- Diarrhea and vomiting
- Seizures and convulsions (occasional)
What are the types of metabolic disorders?
Metabolic disorders have 10 main categories-
- Adrenoleukodystrophy (ALD): It is a metabolic disorder of genetic origin. The patients have long chains of fatty acids in their brain and adrenal cortex. Inhibition of enzymes causing breakdown of fatty acid chains occurs, causing degeneration of myelin sheath on the nerve fibers. It may lead to neurological dysfunctions and death.
- Type I Diabetes: Type I Diabetes Mellitus is a serious form of the metabolic disorder. Insulin deficiency is the primary cause of diabetes. The source of Type I Diabetes may be traced back to mutated variants of two genes – IDDM1 and IDDM 2.
Gaucher disease: It is a kind of genetic disorder caused by mutation of a gene associated with the glucocerebrosidase enzyme, which is responsible for the breakdown of a particular fat called glucocerebroside. People suffering from this disease usually have excess accumulation of fat in bone marrow, liver and spleen. This disease can cause anemia, bone damage, and death.
- Glucose-galactose malabsorption (GGM): This metabolic disorder is characterized by intolerance of glucose, sucrose, lactose, and galactose. Glucose and galactose are not absorbed properly across the linings of the small intestine. It is a recessive disorder. Two defective copies of the SGLT1 gene are responsible for this disease.
- Hereditary hemochromatosis: It is a metabolic disorder characterized by excess absorption of iron from the gut. This results in excess iron in several organs like the liver and pancreas. Mutations in the HFE gene are primarily responsible for Hemochromatosis.
- Lesch Nyhan syndrome: It is an inherited metabolic disorder that arises from impaired metabolism of purines, which are integral parts of DNA and RNA. Several enzymes are involved in the synthesis and recycling of purine. Mutations in the HPRT1 gene are responsible for this disease.
- Maple syrup urine disease: It is characterized by the urine of distinct odor (maple syrup) and is caused by incomplete metabolism of amino acids.
- Menkes syndrome: This is a congenital metabolic disorder. Loss of copper absorption by the cells occurs in this disease. It causes arterial and cerebral degeneration.
- Phenylketonuria: It is a form of a metabolic disorder caused by the deficiency of the phenylalanine hydroxylase enzyme. It can cause retardation, organ damage and complications during pregnancy.
- Lysosomal storage disease: It is characterized by incomplete degradation of catabolic compounds, which thereby get accumulated within the tissues. Damage to Central Nervous System occurs in this condition.
