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SPECIALIZED GENETIC SERVICE
Inborn errors of metabolism are rare genetic disorders in which the body cannot properly turn food into energy. These are caused by defects in specific proteins (enzymes) that help break down parts of food.
Individuals diagnosed through newborn screening or those who develop symptoms later in life, such as poor growth, lethargy, or developmental regression.
Management is highly individualized and may include special diets, medications, and supplements. Close monitoring is key.
Are metabolic disorders treatable?
Many are treatable with early diagnosis and strict management, often preventing severe complications.