Propionic acidemia manifesting with hyperglycemia is rare. Few cases have been reported mainly of the neonatal-onset form associated with high mortality. We report a 9-month-old Palestinian boy who manifested with coma, severe hyperglycemia and ketoacidosis mimicking diabetic ketoacidosis. Family history of unexplained infant deaths was helpful in reaching the correct diagnosis. In response to therapy, the patient regained consciousness without neurologic deficits and had normal examination. This is, to our knowledge, the first case report of late-onset propionic acidemia that had this presentation and survived.

العنوان

Brain and Development Volume 33, Issue 5, May 2011, Pages 428–431

الناشر

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بلد الناشر

فلسطين

نوع المنشور

Both (Printed and Online)

المجلد

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السنة

2011

الصفحات

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