Deficiency of activity of an enzyme or group of enzymes due to single gene defect leads to hereditary metabolic diseases (HMDs). The inborn errors of metabolism (IEM) are accountable for HMDs. They are not common in individuals but collectively they are common. The diagnosis of a hereditary metabolic disease doesn’t require deep knowledge of metabolic pathway. However, understanding of important clinical indicators can help in considering the diagnosis for the possibility of IEMs or HMDs.
IEMs is a very vast topic, here are few efforts to focus on clinical presentations related to it. Inborn errors of metabolism (IEM) is a source for the hereditary metabolic disease (HMD). An activity deficient enzyme or group of enzymes or defective transportation of proteins due to single gene defect leads to hereditary metabolic diseases (HMDs). Various pathophysiological abnormalities related to…
