metabolic disorder metabolic disorder a metabolic disorder is a disorder that negatively alters the body's processing and distribution of macronutrients, such as proteins, fats, and carbohydrates. metabolic disorders can happen when abnormal chemical reactions in the body alter the normal metabolic process. it can also be defined as inherited single gene anomaly, most of which are autosomal recessive. not to be confused with metabolic syndrome. metabolic disorderexample of mitochondrial diseasespecialtyendocrinology typescalcium metabolism disorders, acid-base imbalance, metabolic brain diseasesdiagnostic methoddna testtreatmentvariable (see types) signs and symptoms some of the symptoms that can occur with metabolic disorders are lethargy, weight loss, jaundice and seizures. the symptoms expressed would vary with the type of metabolic disorder. there are four categories of symptoms: acute symptoms, late-onset acute symptoms, progressive general symptoms and permanent symptoms. causes