metabolic disease

metabolic disease A metabolism disorder, such as albinism, cystinuria, phenylketonuria (PKU), and some forms of gout, sun sensitivity, and thyroid disease. There are hundreds of known metabolic diseases. Advances in the diagnosis and treatment of metabolic diseases have improved the outlook for many of these conditions so that early diagnosis, if possible in infancy, can be helpful. Many metabolic diseases cause infants to have symptoms such as sluggishness (lethargy), poor feeding, apnea (stopping breathing) or tachypnea (fast breathing), and recurrent vomiting. Laboratory testing for metabolic disorders might include specific blood tests for known conditions or general tests that indicate metabolic problems. General indicators include hypoglycemia (low blood sugar), which is the predominant finding in a number of metabolic diseases, and jaundice (yellowing) or other evidence of liver disease. Specific patterns of birth defects characterize yet another group of inherited metabolic disorders. Also known as inborn error of metabolism.