Congenital Disorder of Glycosylation Type 1a: A Rare Cause of Dilated Cardiomyopathy in Children
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- Category: Vol. 77, June 2009
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Congenital Disorder of Glycosylation Type 1a: A Rare Cause of Dilated Cardiomyopathy in Children,SARAR MOHAMAD, ABEER HASSAN, AHMAD AL ZAGAL and EBTISAM EL-MELEGY
Abstract
Congenital disorders of glycosylation 1a (CDG1a) is an inborn error of metabolism caused by deficiency of the enzyme phosphomannomutase. It affects the nervous system, heart, liver, gastrointestinal tract, gonads and kidneys. Here we report a case of CDG 1a presented with psychomotor delay, dysmorphic features and cardiomyopathy to highlight the importance of recognizing this potentially life threatening multi-system disease. Because of the paucity of reported cases in Arab descendants, we documented our observations in a Saudi boy with CDG1a.