Congenital disorders of amino acid metabolism
Congenital disorders of amino acid metabolism (pronunciation: /kənˈjenɪtəl dɪsˈɔːdəz ɒv əˈmiːnoʊ æsɪd mɛtəˈbɒlɪzəm/) are a group of metabolic disorders that are present from birth and affect the body's ability to metabolize certain amino acids. These disorders are typically caused by genetic mutations that result in the deficiency or dysfunction of certain enzymes involved in amino acid metabolism.
Etymology
The term "congenital" comes from the Latin congenitus, meaning "born with". "Amino acid" is derived from the Greek amino, meaning "nitrogen-containing", and acidus, meaning "sour" or "acid". "Metabolism" comes from the Greek metabole, meaning "change".
Types of Disorders
There are several types of congenital disorders of amino acid metabolism, including:
- Phenylketonuria (PKU): A disorder that results in the body's inability to metabolize the amino acid phenylalanine.
- Maple syrup urine disease (MSUD): A disorder characterized by the body's inability to break down certain amino acids, leading to a buildup of these substances in the blood and urine.
- Tyrosinemia: A disorder that affects the body's ability to metabolize the amino acid tyrosine.
Symptoms
Symptoms of these disorders can vary widely, but may include developmental delay, intellectual disability, seizures, and failure to thrive. Early detection and treatment can help to manage symptoms and improve quality of life.
Diagnosis and Treatment
Diagnosis of these disorders typically involves genetic testing and biochemical testing. Treatment may involve dietary modifications, enzyme replacement therapy, and in some cases, liver transplantation.
See Also
External links
- Medical encyclopedia article on Congenital disorders of amino acid metabolism
- Wikipedia's article - Congenital disorders of amino acid metabolism
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