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What are the types of metabolic disorders?

The metabolic disorders seen commonly in many people are caused by the genetic conditions that hinder the production of energy within the cells. Some are caused by improper diet or nutritional deficiencies, infections or toxins.

The most common type of metabolic disorder is the genetic metabolic disorder. You can develop a metabolic disorder in your body if some body organs get diseased and do not function normally.

The main content of our food includes carbohydrates, proteins, fats and amino acids. They are recycled in the body through metabolic pathways. Due to some defective enzymes in these pathways, some diseases can be formed. The major types of metabolic disorders are discussed below:

1. Amino acid metabolism disorders:
• Phenylketonuria is caused by a defective enzyme called phenylalanine hydroxylase. This condition results in severe mental retardation. Making necessary dietary modification helps to improve the condition.
• Type I and II tyrosinemia symptoms include nerve damage and liver failure and irritation to the corneas of the eye. Treatment includes liver transplantation and dietary modification. Diet should contain less phenylalanine and tyrosine content.
• Alkaptonuria is caused by the disorder of tyrosine breakdown. The symptoms include dark colored urine, arthritis and bone diseases and hypercoagulability of the blood.
• Hyperhomocysteinemia is caused by various deficiencies in formation of the methylcobalamin form of vitamin B12. The symptoms include elongation of the lens of the eye, thinning of the bones and in many cases, mental retardation of psychiatric abnormalities. Treatment for this disease includes a diet containing vitamin B12, folic acid and betaine

2. Organic acid metabolic disorders:
• Propionic academia is caused by defective propionyl-CoA-carboxylase. The symptoms seen for this disorder are general dysfunction of the metabolism and in some cases, death. The remedy for this disorder includes diet which contains limited amounts of amino acids which acts as precursors to propionyl-CoA.
• Multiple Carboxylase deficiency has no specific symptoms and biotin is administered to correct the disorder.
• Methylmalonic Acidemia is caused by defective enzyme system involved in Vitamin B12 metabolism. Supplementing the patient with large doses of Vitamin B12 is the cure.

3. Fatty acid metabolic disorders:
• Hyperlipidemia and hypercholesterolemia is caused by the irregular utilization of lipoproteins. The major symptoms include cardio vascular disease. Dietary modification and use of drugs to inhibit fatty acid synthesis is necessary for treatment.
• Fatty acid oxidation disorder is caused by the action of a variety of hydroxyacyl-CoA dehydrogenase enzymes. The main symptoms include hypoglycemia, muscle weakness and cardiomyopathy. Patients having this disorder should avoid fasting. Giving intravenous glucose solutions will improve the condition of the patient.
• Glycogen storage disorders are caused by the defects in breaking down of glycogen. The symptoms for these disorder include liver damage, renal dysfunction, muscle damage and in some cases brain damage.

Other major metabolic disorders include purine and pyrimidine disorder, lysosomal storage disorder, disorders of urea formation and peroxisomal metabolism disorders.