Khaleej Times

What’s Inborn Errors of Metabolism?

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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.

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