Metabolism is the process wherein chemical reactions take place in the body to convert or use energy. There are several kinds of metabolism in the body, which are:
- metabolism of carbohydrates
- metabolism of proteins and fats
- transformation of excess nitrogen into waste products to be excreted in urine
- conversion or break down of chemical to other substances
Inherited Metabolic Disorders
These are genetic conditions that result in some problems connected to metabolism. People with inherited metabolic disorders have defective gene that causes enzyme deficiency. Experts say that there are hundreds of genetic metabolic disorders. The symptoms, treatments and prognoses vary greatly for each disorder.
For a long time already, hundreds of types of inherited metabolic disorders have been identified by the experts and new types are being discovered. Here is a list of some of the most common metabolic disorders:
1. Lysosomal Storage Disorders
Lysosomes refer to the spaces inside the cells that break down waste products. When enzymes are deficient inside lysosomes, toxins can build up and cause metabolic disorders such as:
- Niemann-Pick disease where babies develop enlargement of the liver, experience difficulty in feeding and nerve damage.
- Tay-Sachs disease where progressive weakness in a months-old child happens and makes the child live for only four to five years.
2. Maple Syrup Urine Disease
Deficiency in the enzyme BCKD can cause buildup of amino acids in the body. The urine can smell like syrup and nerves can be damaged.
The deficiency in the enzyme PAH can lead to high levels of phenylalanine in blood. This can lead to mental retardation if not attended to immediately.
When the sugar called galactose undergoes impaired breakdown, this will lead to jaundice, liver enlargement and vomiting after breast or formula feeding by a newborn baby.
5. Mitochondrial Diseases
Muscle damage is brought about by problems inside the mitochondria which serve as the powerhouse of cells.
6. Friedrich Ataxia
Nerve damage and heart problems can occur when the protein called frataxin undergoes some problems. Its effect to young adults is inability to walk.
7. Peroxisomal Disorders
Perixosomes are tiny spaces filled with enzymes inside the cells. Poor enzyme function inside these leads to build-up of toxic products.
8. Glycogen Storage Diseases
When sugar storage has problems, low blood sugar level, weakness and muscle pain result.
The symptoms of metabolic disorders vary greatly depending on the problem. Some of the symptoms include lethargy, poor appetite, vomiting, weight loss, jaundice, developmental delay, abdominal pain, seizures, coma, failure to grow or gain weight, and many more.
The current technology cannot correct the genetic defect that causes these conditions. As a matter of fact, treatments available try to address the problems connected with metabolism. In addition, there are a few general principles that these treatments follow such as the reduction or elimination of any food or drug which cannot be properly metabolized, removal of accumulated toxins, and the replacement of the enzyme that is missing or inactive.