A metabolic disorder can happen when abnormal chemical reactions in the body alter the normal metabolic process. It can also be defined as inherited single gene anomaly, most of which are autosomal recessive. These kinds of disorders can be a result of genetics, a deficiency in a certain hormone or enzyme, consuming too much of certain foods, or a number of other factors. There are hundreds of genetic metabolic disorders caused by mutations in single genes. These mutations can be passed down through generations of families. It is hence imperative to be aware of the different types of genetic disorders so that one can take steps to detect any abnormality at the right time and also take steps to correct the same.
Common Metabolic Disorders:
Lysosomal storage disorder
Spaces within cells which break down unwanted products of metabolism are called lysosomes. Several enzyme deficiencies within lysosomes may lead to creation of toxic elements resulting in metabolic disorders comprising-
Impaired break down of sugar galactose results in vomiting, jaundice, and enlargement of liver post breast feeding or formula feeding to a newborn.
Maple syrup urine disease
In this disease, deficiency of BCKD enzyme results in the creation of amino acids in our body. The result is damaged nerves and the smell of urine like that of syrup.
Phenylketonuria or PKU
Deficiency of enzyme known as PAH leads to the high amount of phenylalanine in our blood. The results in mental retardation if not recognized early.
Glycogen Storage Diseases
Problem with storage of sugar causes low levels of blood sugar, pain in muscles and weakness.
These are related to malfunctioning within mitochondria which is the powerhouse of cells. This condition results in damage of muscles.
Problems relevant to frataxin protein causes damage in the nerves and often results in heart problems. It can also lead to an inability to walk from young adulthood.
Like lysosomes, the peroxisomes are small spaces that are full of enzymes within cells. Poor function of enzymes within peroxisomes can result in the creation of waste products of metabolism. These disorders include-
Metal Metabolism Disorders
Trace metals’ levels in the blood are directed by special proteins. Inherited metabolic disorders may lead to protein malfunction & toxic buildup of metal within our body:-
Propionic academia and methylmalonic academia
Urea Cycle Disorders
Ornithine transcarbamylase deficiency &citrullinemia