Inborn Errors of Metabolism: Indian Scenario

The term 'inborn errors of metabolism' (IEM), was first coined by a British scientist Archibald Garrod to describe the genetic deficiency or alteration in enzyme function The enzyme deficiency leads to substrate accumulation which causes minor to severe clinical symptoms, mostly with neurological and psychiatric symptoms that often leads to death or life long disability. Neurological symptoms of the patients included psychomotor delay, mental retardation, seizures, dystonia, ataxia, lethargy, coma, encephalitis, speech delay, hyperactivity etc. other symptoms were failure to thrive, organomegaly, vomiting, skin rashes, metabolic acidosis, hyperammonemia, hypoglycemia, lactic acidosis and ketonuria. If these patients are not diagnosed and treated early in life, they go on to have irreversible brain damage. Many body systems are affected, and the predominant damage will be to the central nervous system.