Congenital Metabolic Diseases
What is it?
Congenital metabolic disorders are rare but important diseases caused by genetic disorders that affect the body's basic biochemical processes. These conditions, which are most common in children, can lead to functional disorders in protein, carbohydrate, fat or other metabolic processes. These diseases, which usually require early diagnosis and treatment, are associated with a deficiency or dysfunction of enzymes that ensure the proper functioning of metabolism.
Since metabolic diseases are mostly congenital, diagnosis during infancy and childhood is of great importance. However, there may be metabolic diseases that are not diagnosed until adulthood. After the diagnosis is made, a special treatment process is followed for each patient. Treatment methods may include appropriate diet programmes, drug therapies and in some cases more advanced medical interventions. Early intervention plays a critical role in preventing long-term complications by improving the child's quality of life.
Inborn errors of metabolism are a group of genetic disorders that affect the body's ability to produce energy and process essential components. These disorders can manifest themselves in different ways and to different degrees in each individual. Symptoms often vary depending on the biochemical process affected and the type of disease. Some inborn errors of metabolism become apparent in the first days or weeks of life, while others may not be recognised until childhood or even adulthood.
The main symptoms are as follows:
- Feeding Difficulties: Difficulties in feeding, frequent vomiting or inadequate weight gain in infants may be one of the signs of metabolic problems.
- Growth and Development Retardation: Children with metabolic diseases may lag behind their peers in terms of growth and development. Slowdown in height or weight gain or developmental delays may be observed.
- Vomiting and Loss of Appetite: Frequent vomiting and loss of appetite may occur as a result of metabolic imbalances, which may lead to weight loss or emaciation in children.
- Muscle weakness and movement disorders: Some metabolic diseases can affect the muscular system, leading to muscle weakness, tremors, or movement difficulties.
- Developmental Delays: Delays in mental or motor development; learning difficulties, slowing of language development are common in some congenital metabolic diseases.
- Seizures and Nervous System Problems: Sudden seizures, tremors, convulsions or loss of consciousness can occur, especially when metabolic diseases affect the nervous system.
- Sleep Patterns and Restlessness: Excessive sleeping, constant restlessness or disturbed sleep patterns in infancy may be a sign of an underlying metabolic problem.
- Skin Colour Changes and Odour Changes: In some metabolic disorders, skin discolouration or a sharp and distinctive odour in body fluids such as urine may be observed.
Congenital metabolic disorders can present with a wide spectrum of different symptoms. Due to the variety of symptoms, early diagnosis of such disorders is important. If diagnosed, an appropriate treatment plan can help to control the disease and improve the patient's quality of life.
The diagnosis is made by the metabolic diseases specialist by ordering biochemical and genetic tests specific to the suspected disease.
Treatments are applied specific to the diagnosed disease. While some diseases have special medication and dietary treatment, the treatment of some congenital metabolic disease groups are supportive treatments.