Metabolic disorder

Metabolic Disorder[edit | edit source]

Illustration of metabolic pathways affected in metabolic disorders.

A Metabolic Disorder is a medical condition characterized by the disruption of normal metabolic processes, often due to the absence or deficiency of an enzyme. These disorders can affect various metabolic pathways, leading to a wide range of health issues.

Causes[edit | edit source]

Metabolic disorders are often caused by genetic mutations that lead to enzyme deficiencies. These enzymes are crucial for various biochemical reactions in the body.

Types of Metabolic Disorders[edit | edit source]

Metabolic disorders can be broadly classified into several categories:

Inborn Errors of Metabolism: Genetic disorders present from birth, affecting metabolism.
Diabetes Mellitus: Disorders of insulin production or action.
Lipid Metabolism Disorders: Affecting the breakdown or storage of fats.
Disorders of Carbohydrate Metabolism: Such as glycogen storage diseases.
Amino Acid Metabolism Disorders: Such as phenylketonuria (PKU).

Symptoms[edit | edit source]

Symptoms vary widely but may include:

Failure to thrive in infants
Developmental delays
Organ dysfunction
Neurological symptoms in severe cases

Diagnosis[edit | edit source]

Diagnosis often involves:

Blood tests for enzyme levels or metabolites
Genetic testing
Newborn screening for early detection

Treatment[edit | edit source]

Treatment depends on the specific disorder and may include:

Dietary management
Enzyme replacement therapy
Medications to manage symptoms or complications

External Links[edit | edit source]

Metabolic disorder Resources
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