What’s Inborn Errors of Metabolism?
Inborn errors of metabolism (IEM) are rare but collectively they are common. They are genetic disorders that usually are transmitted as autosomal recessive. It affects both male and females. Symptoms of IEMs: Failure to thrive, weight loss, developmental regression, seizures, stroke, recurrent vomiting, diarrhea, abdominal pain, enlarged heart, hypertension, myocardial infarction, hepatomegaly, jaundice, liver failure, enlarged spleen, unusual facial features, congenital malformations, excessive breathing (hyperventilation, respiratory failure), abnormal behavior, depression, psychosis, joint pain, muscle weakness, cramps.