E70: Disorders of aromatic amino-acid metabolism
Disorders of aromatic amino-acid metabolism are a group of rare genetic conditions that involve errors in the body's ability to break down certain types of proteins. These disorders are typically caused by gene mutations that reduce or eliminate the activity of the specific enzymes needed for the metabolism of the aromatic amino acids: phenylalanine, tyrosine, and tryptophan. These metabolic defects can lead to an accumulation of excess levels of these amino acids or their breakdown products in the body, which can disrupt normal bodily functions. Symptoms can vary greatly depending on the individual condition but may include developmental delay, intellectual disability, growth problems, and skin or eye abnormalities. As these conditions are genetic, they are usually present from birth and can be passed down from parents to their children. Such disorders can progress over time and potentially lead to serious health complications, affecting multiple body systems including the nervous system and skin.
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